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Organic Molecules and Macromolecules Explained

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0% found this document useful (0 votes)
25 views192 pages

Organic Molecules and Macromolecules Explained

Uploaded by

shamsalmulla7
Copyright
© All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd

Dr.

Nama Kotb
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A chemistry for
biologists

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Organic molecules:
🐾 Organic compounds contain Carbon atoms together with Hydrogen
and Oxygen. Some of them contain Phosphorus and/or Sulphur.
🐾 Carbon atoms are tetravalent. The four bonds are arranged in a
tetrahedral shape thus carbon compounds can be any 3D shape.
🐾 Molecular formula: it shows the chemical symbol of each atom and
its number in a molecule. Example: a molecule of glucose has the
molecular formula C6H12O6

🐾 Structural formula: it shows the arrangement of atoms within a


molecule.
🐾 Macromolecule: a large molecule formed by linking together many
subunits called monomers.
🐾 Monomer: subunits that can be linked together by condensation
reactions to form larger molecules (macromolecules or polymers)
🐾 Isomer: molecules having the same molecular formula but different
structural formulae.
🐾 Polymer: a macromolecule made of similar or identical monomers.
🐾 Condensation reaction: removing water by a chemical reaction to
join two molecules together.
🐾 Hydrolysis: adding water by a chemical reaction to breakdown a
macromolecule into smaller molecules.

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Note
🐾 All polymers are macromolecules: but not all macromolecules
are polymers.
🐾 Poly saccharides and polypeptides are polymers while lipids are
macromolecules but not polymers.

The are 3 main groups of carbohydrates:


monosaccharides, disaccharides and poly saccharides.
A. Monosaccharides: (CH2O)n

🐾 Triose sugars (n=3) only 3 carbon atoms so C3H6O6 During


respiration process in the mitochondria, a glucose molecule is broken
down into 2 triose molecules.

🐾 Pentose sugars (n=5) have 5 carbon atoms so C5H10O5. Examples


are: ribose sugar in RNA and deoxyribose sugar in DNA.

🐾 Hexose sugars (n=6) have 6 carbon atoms so C6H12O6

Examples are: glucose galactose fructose


→ Glucose is used in respiration, fructose is found in fruits & galactose
forms lactose of milk.
• Glucose has 2 isomers: α-glucose and β-glucose

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Linear structure of Glucose:

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Disaccharides :
→ double sugars CnH2n-2On-1
🐾 Made up of two monosaccharides (monomers) joined together.
🐾 Monomers are joined together by condensation reaction
(where a molecule of water is removed) and a split apart by hydrolysis
reaction (where a molecule of water is added).
🐾 The link between the two monosaccharides is a covalent bond known
as glycosidic bond.
🐾 When different monosaccharides join together, different
disaccharides are made and these have different properties:

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C. Polysaccharides:
large number of monomers joined together to form complex
carbohydrate by condensation reaction Cn(H2O)n-1
🐾 True polysaccharides: molecules containing 11 or more
monosaccharides.
🐾 Hydrolysis takes place in the gut during digestion and in liver &
muscle cells when carbohydrate stores are broken down to release
sugars needed for cellular respiration.

Properties of Polysaccharides
🐾 have high molecular weight.
🐾 They are water-insoluble (hydrophobic/non-polar)
🐾 They have non-sweet taste.

🐾 Polysaccharides are starch, cellulose and glycogen.


🐾 Starch: is composed of α-glucose monomers joined by condensation
reaction. It is a mixture of two compounds:

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Cellulose
🐾 It's a polymer of β -glucose monomers joined together by β-1,4
glycosidic bonds formed through condensation reactions. Every other
monomer is inverted so that bonding can take place.
🐾 A cellulose molecule is straight & unbranched.
Cellulose molecules are joined together by intermolecular hydrogen
bonds. (Cross linkages)
🐾 A microfibril consists of many cellulose
molecules cross linked by hydrogen bonds.
🐾 The cell wall consists of cellulose microfibrils
embedded in a matrix of hemicellulose and
protein.

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Comparison between starch & cellulose


Similarity:
🐾 Both polymers of glucose monomers joined together by glycosidic
bonds formed through condensation reaction.

Differences:
🐾 Starch consists of a-glucose while cellulose consists of β -glucose.
🐾 In cellulose, every other monomer is inverted while in starch, all
monomers have the same orientation.
🐾 Only starch may have 1,6 glycosidic bonds.
🐾 Cellulose is straight & unbranched unlike starch which may be
helical (amylose) or branched (amylopectin).

Only cellulose has intermolecular hydrogen bonds.

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Starch is made out of


Amylose 30% Amylopectin 70%

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Glycogen:
🐾 “animal starch” composed of α-glucose monomers.
🐾 It is similar to amylopectin but branches are more frequent
(every 10 glucose subunits) so it can be broken down very rapidly.

The structure of polysaccharides makes them ideal as ideal as energy


storage molecules within the cell (or adaptations of starch and glycogen
for their storage function):

🐾 They form compact molecules, so a large number of glucose


molecules can be stored in small space.
🐾 Physically and chemically inactive (non-reactive) so they do not
interfere with any metabolic reactions in the cell.
🐾 Water insoluble so they do not affect osmotic pressure of cells.
🐾 Rapidly hydrolyzed by enzymes due to many terminal glucose units
in the side branches.

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Lipid

🐾 They are formed of C, H and O atoms like carbohydrates but the


ratio of H:O is not 2:1 (much less oxygen than carbohydrates).
🐾 Fats and oils are chemically similar but fats
(having saturated fatty acids) are solids at room temperature while oils
(having unsaturated fatty acids) are liquids at room temperature.
🐾 Fats and oils contain fatty acids and glycerol that are combined by
ester bonds to form triglycerides (C3H8O3).

Triglycerides:
🐾 Act as energy store (more than carbohydrates)
🐾 Thermal insulator to prevent heat loss in animals.
🐾 Electrical insulator; myelin sheath around nerves to conduct
electrical impulses at high speed
🐾 Have low density so body fat helps animals to float over water
(buoyancy).
🐾 Supporting organs in our body (fatty tissue surrounding some
organs).
🐾 Hydrophobic: they do not dissolve in water.
Lipids that are transported in blood plasma are converted into
hydrophilic lipoproteins.
🐾They only dissolve in organic solvents so they do not affect any
water-based reactions in the cell.

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🐾 Each triglyceride molecule is formed of 1 glycerol molecules and 3


fatty acids molecules joined by ester bonds.
🐾 Fatty acids differ in the length of the carbon chain. A fatty acid may
be saturated or unsaturated.

This type of condensation reaction is called esterification where an


ester bond is formed between carboxyl group (-COOH) of fatty acid
and one of the hydroxyl groups (-OH) of glycerol.

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Phospholipids:
🐾 They are the same as triglycerides but one of the fatty acid chains is
replaced by hydrophilic phosphate group.
🐾 Accordingly, a phospholipid molecule has a polar/hydrophilic head
which is the phosphate group and two non-polar/hydrophobic tails
which are two the fatty acids.
🐾 Phospholipid molecules are a major constituent of the cell
membrane known as phospholipid bilayer.

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Cholesterol:
▪ Different from structure of triglycerides as they are short lipids.
▪ Examples are sex hormones, in bile salts and integral parts of the cell
membranes.

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Proteins
🐾 They are formed of C , H, O and N atoms
(with or without phosphorus and Sulphur).
🐾 They are polymers of amino acids (monomers) linked together by
peptide bonds in condensation reaction.
🐾 All amino acids have the same basic structure consisting of a central
carbon attached to a hydrogen atom, carboxyl group (-COOH) on one
side and amino group (-NH2) on the other side together with a variable
R group.
🐾 The R groups are not involved in the reactions which join the amino
acids together.
🐾 The R group affect the way the amino acid interacts with others
within the protein molecule.
🐾 R groups may be polar or non-polar.
🐾 There are only 20 different amino acids, the kind of protein differ
according to the kinds, sequence and number of amino acids forming
the protein.

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Forming proteins from amino acids:


🐾One amino acid loses OH from its carboxylic group while the other
amino acid loses H from its amino group in a condensation reaction
where a peptide bond is formed and water is removed.
🐾 Peptide bonds may be broken down by addition of water in
hydrolysis reaction.
🐾 A dipeptide is formed when two amino acids join together. When
more than two join together, it’s a polypeptide.
🐾 Since R groups are the only different thing between amino acids,
therefore they:
- Determine the properties of amino acids.
- Determine the function of the formed proteins.
- Determine types of bonds that hold proteins in the tertiary and
quaternary structures.

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Protein Structure:
1. Primary structure
🐾 “linear sequence” It is the number, type and sequence of amino
acids in the polypeptide chain, held together by peptide bonds.

2. Secondary structure
🐾 It is the arrangement of the polypeptide chain into a regular,
repeating 3D structure, held together by Hydrogen bonds
(formed between slightly charged atoms in the backbone of amino acids)
producing an α-helix or β-pleated sheets.

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3. Tertiary structure
🐾 It is another level of 3D organization in addition to the secondary
structure.
🐾 The amino acids chain (including α-helices and β-pleated sheets) is
folded further into more complicated shapes through formation of bonds
between the R groups of nearby amino acids.
🐾 These bonds that hold the 3D shapes in place are: hydrogen bonds,
disulfide bonds and ionic bonds. Also, hydrophobic interactions exist to
make the chain bend or fold.

Types of bonds
Hydrogen bonds Ionic bonds Disulfide bonds
1. formed between 1. formed between 1. Formed by
partial positive charge the charged amino oxidation reaction
of H and partial group and charged between R-groups of
negative charge of the carboxyl group of R- amino acids that
O found in R-groups. groups of the amino contain sulfur
2. Very weak bonds acids. 2. They are (cysteine). 2. The
but are very frequent. stronger than strongest of all
3. Break easily and Hydrogen bonds but bonds. Occur less
reform if pH and weaker than disulfide frequent than
temperature bond. They are not hydrogen bonds. 3.
conditions change. commonly found. 3. Only broken by
Broken by pH reducing agents
changes. (chemicals such a
perming treatments)

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Hydrophobic interactions: they are not real bonds. Their presence between
hydrophobic R groups makes the polypeptide chain bend and fold.

4. Quaternary structure
🐾 is only found in proteins containing two or more polypeptide chains,
where the chains are linked together to form a complex functioning
protein.
🐾 Examples are:
haemoglobin (4 chains), insulin hormone (2 chains) and some enzymes.
Chains are linked together by the same types of bonds involved in the
tertiary structure

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Denaturation of proteins:
It is the loss of the complex 3D shape of the protein due to breaking
down of the bonds which leads to loss of its tertiary structure and thus
its function.
🐾 Very high temperatures break hydrogen bonds , Ionic and
Hydrophobic interaction.
🐾 Severe changes of pH break hydrogen and ionic bonds.
🐾 Addition of reducing agents breaks disulfide bonds.
🐾 Peptide and disulfide bonds never break down

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Fibrous and globular proteins:

POC Globular Fibrous

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Collagen:
🐾 Collagen is the most common structural protein in animals. It gives
strength to tendons, ligaments, bones and skin.
🐾It has tensile strong fibers that are extremely strong due to the
special arrangement of collagen molecule.
🐾 Each collagen molecule is made up of 3 polypeptide chains.
🐾 Each polypeptide chain is made up of 1000 amino acids with the
repetition of glycine and 2 other amino acids sequence.
🐾 The three α-helix chains are arranged as a triple helix held together
by hydrogen bonds.
🐾These collagen molecules are arranged to form fibrils that are held
together to form fibers.

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Haemoglobin:
🐾 It is a very large globular made up of 4 polypeptide chains held
together by disulfide bonds.
🐾 Each polypeptide chain surrounds an iron-containing heme group.
🐾 The iron enables the haemoglobin to bind and release oxygen
molecules.
🐾The arrangement of the polypeptide chains determines how easily
oxygen binds or is released.

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Conjugated proteins:
🐾 This structural feature affects the performance and functions of the
molecules,
🐾 Haemoglobin (a globular protein) is a conjugated protein with iron
as the prosthetic group.

Lipoproteins:
🐾 are proteins conjugated with lipids (examples: LDL and HDL) ➢
important in transporting cholesterol in blood as the lipid part of the
molecule enables it to combine with cholesterol (lipid).

Glycoproteins:
🐾 are proteins conjugated with a carbohydrate prosthetic group.
🐾 The carbohydrate part helps the molecule to hold a lot of water so
makes them slippery & viscous (so reduces friction).
🐾 The carbohydrate part makes it harder for protein-digesting
enzymes (proteases) to break them down (the mucus produced in the
stomach protects the protein walls from digestion).
🐾 Examples: mucus and synovial fluid in joints.

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The chemistry of water


🐾 H2O In a water molecule, the electrons are held closer to the oxygen
atom than to the hydrogen atoms. So, water is a polar and nonlinear
molecule
🐾 A major effect of this polarity is that water molecules form hydrogen
bonds. The slightly negative oxygen atom of one water molecule will
attract the slightly positive hydrogen atoms of other water molecules
(cohesive forces).
🐾 Each hydrogen bond is weak but there are many of them so water
molecules tend to “stick together” and move as an unbroken column.
Water has a relatively high melting and boiling points as it takes a lot of
energy to break all the hydrogen bonds that hold the molecules
together.

Importance of water:
1. Water is an excellent solvent. Due to its polarity, it dissolves ionic
compounds. Water also dissolves all polar covalent substances that do
not dissolve in other covalently bonded solvents such as ethanol.

2. Water is an excellent transport medium due to its dipole nature.


Other than the substances that water can dissolve; it also carries other
substances such as starch (whose molecules are bigger than water
molecules so form a colloid). Accordingly, most of the chemical reactions
within cells occur in water (aqueous solution).

3. Low density of Ice: As water cools to 4 ℃, it reaches its maximum


density. As it cools more, the solid ice is least in density and floats over
liquid water forming an insulating layer, thus preventing water
underneath from freezing and keeping marine life.

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4. High specific heat capacity: water is slow to absorb and release heat.
So, temperatures of lakes and seas do not change much throughout the
year. Thus, being good habitats for living organisms.

5. Water is a liquid so it can’t be compressed. This is important in


hydraulic mechanisms in living organisms.

6. Water molecules are cohesive – the forces between the molecules


mean they stick together. This is how water moves from the roots to
leaves of plants.

7. Water molecules are adhesive – they are attracted to other different


molecules. This is important in plant transport systems and in surface
tension.

8. Water has a very high surface tension because the attraction between
the water molecules (by hydrogen bonds) is greater than the attraction
between water molecules and air.
So water molecules hold together forming a thin “skin” of surface
tension. This is important in plant transport systems and life at the
surface of water masses.

9. Water is amphoteric as it can act as a proton donor (forms H+ ions) or


a proton acceptor (forms OH ions) thus keeping pH constant during
metabolic reactions; acts a “buffer”

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Mammalian Transport
Chapter 1 B🐾

Multicellular animals & plants need transport systems:


🐾 Small single celled organisms:
can meet their requirements for the supply of nutrients & oxygen, and the
removal of waste products by means of diffusion.

🐾 These tiny organisms have a large surface area compared to their total
volume, so there’s a relatively large area of membrane across which gases
can diffuse in & out of their body.

🐾 Large, more active organism e.g., insects,


fish & mammals: can’t rely on diffusion alone. Cells often deep within their
bodies are metabolically active, with requirements for rapid supplies of
nutrients & oxygen and with relatively large amount of waste products to be
removed. These organisms have well organized transport systems with pumps
to keep fluid moving and to overcome
limitations of diffusion. (mass transport
system).

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Features of the mass transport


system:
1. A system of vessels that carry substances and a suitable transport
medium. e.g. fluid.
2. A way of making sure that substances are moved in the right direction
e.g. nutrients in and wastes out.
3. A means of moving materials fast enough to supply the needs of the
organism i.e. by using a pump like the heart.
4. Exchange surfaces to get material in and out of the transport system.

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Blood Components & Functions:

🐾 About 6 liters
🐾 Slightly alkaline ( pH 7.4)

Blood consists of
🐾 Red blood cells or ( erythrocytes or red corpuscles )
🐾White blood cells or (leukocytes)
🐾Platelets
🐾Plasma
1- Red blood cells

Function
🐾Transport of O2
🐾Transport small amount of carbon dioxide.
-Are formed → Bone marrow
-Its haemoglobin →Composed of protein and iron .

🐾Combines with O2 forming unstable Oxyhaemoglobin and the blood is


called oxygenated
🐾 Oxyhaemoglobin decomposes releasing O2 around tissues , and the
blood becomes deoxygenated .

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Adaptations of RBCs
🐾 Very small to be able to pass through the fine capillaries.
🐾 Have elastic walls to squeeze themselves in the fine capillaries .
🐾 Contain haemoglobin to transport oxygen .
🐾 Biconcave to increase surface area for combination with oxygen .
🐾 Contain no nucleus to carry more haemoglobin to transport more
oxygen.
🐾 Produced in very high rate, because they have short life ( about 120
days).

2-White blood cells

Function:
- Defense (immunity )
There are two main types:
1- Phagocytes
- Its function is to engulf foreign bodies such as
bacteria, microbes or germs.
How engulfing takes place→

Phagocyte surrounds bacteria to be taken inside it, then it secretes enzymes to


digest and use it as
food.

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2- Lymphocytes
- Its function → is to produce antibodies ( proteins ) that attack nucleus
microbes, germs or pathogens .

Formation of White blood cells :


→ are formed in the bone marrow and lymph node.

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3-Platelets

▪ Small fragments of cells with no nucleus, made in bone marrow.


▪ Function:
blood clotting →Importance:
1- Prevents too much loss of blood.
2- Prevents entry of pathogens.

They are tiny fragments of large cells called


megakaryocytes which are found in the bone
marrow, there are about 150,000-400,000 platelets
per mm3 of blood and are involved in blood
clotting.

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Blood Clotting

When there’s a cut in a blood vessel, there should be a


clotting mechanism to block this damaged vessel in order to
stop bleeding and to prevent the entry of pathogens.

🐾 First Serotonin causes the smooth muscles of the damaged


blood vessel to contract; this narrows the blood vessels,
cutting off the blood flow to the damaged area, then:

1. Thromboplastin catalyzes the conversion of a large soluble


protein called Prothrombin found in the plasma into another
soluble enzyme called Thrombin (Prothrombin is a precursor
of thrombin) & calcium ions are needed for this reaction to happen).

2. Thrombin converts another soluble plasma protein called


Fibrinogen, to insoluble fibrin. This forms a mesh of fibers.

3. More platelets and blood cells pouring from the


wound get trapped in the fibrin mesh, forming a clot.

4. Special proteins in the structure of the platelets


contract, making the clot tighter and tougher to form
a scab that protects skin and vessels underneath
as they heal.

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4- Blood Plasma

Blood is formed of plasma = 55% of its volume,


and blood cells floating in the plasma = 45%.
Plasma
🐾 A transparent yellow liquid in which blood cells are floating ; 90% of
plasma is water and 10% are dissolved substances:

🐾Digested food; glucose, amino acids, fatty acids and glycerol, vitamins and
minerals
🐾Antibodies. Produced by lymphocytes
🐾Hormones produced by endocrine glands.
🐾Urea dissolved in plasma produced by liver cells from deamination of
excess amino acids.
🐾CO2 produced during respiration, transported as hydrogen carbonate in
plasma
🐾Plasma protein e.g. fibrinogen made by liver cells

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Role of haemoglobin in transport of oxygen


🐾 Explain how Hb is adapted to combine with O2 .
🐾 The affinity of haemoglobin to oxygen can be described at its ability to
combine with oxygen. The PO2 is the concentration of oxygen in air.
🐾 If the PO2 is high as in lungs, haemoglobin will be able to pick up oxygen
Θ
becomes saturated. If the PO2 is low, haemoglobin will release oxygen as in
respiring tissues to allow dissociation of oxygen.

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Haemoglobin dissociation curve:

Aim: To find out how haemoglobin behaves at different concentrations


͞partial pressures͟ of oxygen.

How is it done?
1. Hb samples are exposed to different PO2.
2. The maximum amount of oxygen with which a sample can possibly combine
is given value of 100% & the sample of Hb is said to be saturated. (i.e.
combined with its maximum amount of oxygen).
3. The percentage saturation of each sample is plotted against PO2

Why is the curve ͞S͟ shaped?


Oxygen molecules combine with the iron atoms in the heme groups
of a haemoglobin molecule.

Each haemoglobin molecule has four heme groups. When first


oxygen molecule combines with heme group, the whole
haemoglobin molecule is slightly distorted as many bonds were
broken.

The distortion makes it easier for a second oxygen molecule to


combine with a second heme group.

This in turn makes it easier for a third oxygen molecule to combine


with a third heme group. Little harder for fourth oxygen molecule to
combine to a heme group as haemoglobin is almost saturated.

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Haemoglobin carries 98.5% of the oxygen in the


form of Oxyhaemoglobin, and 1.5% is carried in
the form of dissolved oxygen in the blood plasma

Note
Co2 → carbamino haemoglobin
Co → carboxyhemoglobin
O2 → Oxyhaemoglobin
H+ ions → haemoglobin acid

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1. Haemoglobin picks up oxygen at the lungs where the PO2 is high→ this
makes the Hb 95-97% saturated with oxygen.

2. Haemoglobin releases oxygen at the respiring cells where the PO2 is very
low & the PCO2 is very high→ Hb saturation will be 20-25% .

From the dissociation curve & in relation with what happens in the human
body:

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The effect of partial pressure of carbon


dioxide on the dissociation of Hb to oxygen Bohr shift.

The increase in the partial pressure of Co2 as in respiring tissues


lowers Haemoglobin affinity to oxygen due to decrease in pH so
increases the release of oxygen from Hb.
This is significant, as the cells need oxygen for their respiration Θ
energy release. The energy is needed by the cell to drive all its vital
activities.

Bohr’s shift is shift of the curve to the right as PCO2 increase

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Describe how carbon dioxide stimulates the release of oxygen from Hb:

90% of CO2 diffuses from tissue fluid to blood plasma, into RBC, then
combines with water, catalyzed by Carbonic anhydrase ennjyme makes the
reaction very fast , giving carbonic acid, that dissociates into H+ ions & HCO3
ions.

HCO3 ions diffuse out of RBC to blood plasma ,to act as a buffer.
H+ ions lowers pH in RBC changing shape of HB, HB has a higher affinity to H
ions than O2, so combines to H ions forming haemoglobin acid & releasing
O2.

10% of CO2 diffuses from tissue fluid into RBC to combine with terminal
amine group of HB forming carbamino haemoglobin.

By this it becomes true, as Bohr shift described, that the increase in pCO2
decreases the pH and increase the release of oxygen.

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Explain how is the carbon dioxide transported


in the blood?

• 85% of Carbon dioxide diffuse into the red blood cell where most of it will be
changed
to HCO3 that will diffuse into the plasma to be transported in the blood.
• 10% of the released CO2 diffuse into the red blood cell to combine with the
terminal
amine group of Hb giving carbamino haemoglobin.
• 5% of the carbon dioxide enters the plasma and are converted to hydrogen
carbonate.

When blood reaches the lungs:


When blood reaches the lungs, CO2 concentration in air in alveolus is lower
than
in blood, VR CO2 diffuse from the blood into the air in the alveoli, this
stimulates the CO2 in the carbamino haemoglobin to leave the red blood cell,
hydrogen carbonate & hydrogen ions to recombine to form CO2 molecules
once more.
this leaves the haemoglobin molecule free to combine with oxygen, ready to
begin another circuit of the body .

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Factors affecting oxygen carriage:

At Lungs At Actively Respiring Cells


High PO2 Low PO2
Low PCO2 High PCO2
Higher pH Lower pH
Lower temperature Higher temperature
More oxygen combining More oxygen released

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The effect of carbon monoxide:

The affinity of hemoglobin to CO is greater than its affinity to oxygen ї it


combines with carbon monoxide more readily Θ irreversibly giving stable
carboxy haemoglobin.
(remains for a long time & so oxygen cannot be carried by Haemoglobin)
Carbon monoxide is due to incomplete combustion of carbon compounds as
cigarette, exhaust

Fetal Haemoglobin

Fetal Hb has a higher affinity to oxygen than adult haemoglobin.


This makes fetal Hb able to be saturated with O2 at a lower PO2 ,as
in placenta than PO2 that saturates adult haemoglobin
“as in lungs”.
Haemoglobin dissociation curve for fetal Hb would show slightly
more saturation at each PO2 than adult Haemoglobin.
The curve lies above & to the left shift to the left of the curve for
normal adult Hb.

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Myoglobin

chemically similar to haemoglobin but consists of only a single


heme group. (Tertiary structure)
Found mostly in voluntary (skeletal) muscles & has affinity to
oxygen more than Hb , So it combines with forming oxy myoglobin

🐾 It will keep oxygen & will not release it unless greatly needed by
muscles (i.e.: the PO2 is very low)
🐾Myoglobin has a higher affinity to oxygen than normal
haemoglobin as it is saturated with oxygen at a lower PO2.
🐾 Myoglobin stores oxygen & doesn’t release it except during
exercises when PO2 is very low.
🐾This delays anaerobic respiration in muscles.
🐾"acts as an oxygen store in muscles"

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High Altitude

Why people going to high altitude may suffer altitude sickness?


🐾 At high altitude partial pressure of oxygen is lower than sea level→ so less oxygen in
inhaled air entering lungs→ less oxygen reaching alveoli less concentration gradient with
blood→ less oxygen diffusing into blood → so haemoglobin is less saturated with oxygen→
less oxygen to respiring cells → hypoxia & altitude sickness.

How people can survive at high altitude?


🐾 At high altitude partial pressure of oxygen is lower than sea level → so haemoglobin is
less saturated with oxygen → so number of red blood cells increases to increase
haemoglobin, hematocrit increases & affinity of haemoglobin to oxygen increases → to
carry the same volume of oxygen as at sea level → compensating low saturation of
haemoglobin → to give cells the oxygen they need for their respiration → avoid hypoxia &
altitude sickness.
🐾 Larger lungs with more alveoli, larger capillary density.
🐾 Larger heart especially the right ventricle to pump blood to the lungs.

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Blood Vessels

General structure: basically arteries & veins consists of three layers:

1. Tunica Intima: made of endothelial cells.


2. Tunica Media: made of smooth muscles Θ elastic fibers.
3. Tunica Externa: consists mainly of collagen fibers.

A- Arteries
Function: Transport of blood from heart to all body organs.
N.B. Blood carried is oxygenated except for pulmonary & umbilical arteries.
tunica intima : which is the endothelium
(a very smooth, single layer of cells – squamous epithelium)
relatively narrow lumen
Tunica media : containing elastic fibers, collagen fibers and smooth muscle
Tunica externa: containing collagen fibers and some elastic fibers

Transverse section (TS) through small artery

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Adaptations of arteries:
Narrow lumen: to keep blood pressure high;
The further from the heart, the narrower the lumen.0

1. Tunica Intima:
single layer of endothelium reduce frictional resistance to blood flow.
Folded to increase in diameter during ventricular systole to avoid its damage.

N.B supported by connective tissue.

2. Tunica Media: consists of elastic fibers & smooth muscles


🐾 Thick to withstand high blood pressure.
🐾 Smooth muscles contract narrowing lumen, so increase blood pressure.
🐾 The further the blood vessels from the heart, the more the smooth
muscles & the less the elastic fibers.
🐾 Elastic fibers allow the stretch & recoil of arteries.

3. Tunica Externa: contains elastic fibers & collagen fibers to withstand the
high pressure.

Significance of stretching:
To take blood in on ventricular systole & avoid bursting.

Significance of recoiling:
Recoil on ventricular diastole, this smooth out blood flow along the length of
arteries.

Explain why pressure in the arteries is always high, although the pressure in
ventricles reaches ?
🐾 Pressure in the ventricles reaches zero on ventricular diastole as ventricle
muscle
relaxes after ejaculation of blood.
🐾Pressure in arteries remains high due to the narrow lumen.
🐾Recoil of elastic fibers found in the tunica media helps narrows the lumen
during ventricular diastole.

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B- Veins

Function: Transport of blood from body organs to heart.


ΗN.B. Blood carried is deoxygenated except pulmonary & umbilical Veins.

Adaptations of a vein:
• Wide lumen: to reduce resistance to blood flow
1. Tunica Intima: made of endothelial cells
2. Tunica Media: Has less elastic fibers & less smooth muscles as blood
pressure low & blood vessels do not stretch.
3. Tunica Externa: Contains elastic fibers & collagen fibers to withstand the
high pressure.

Thin wall: as the blood pressure is low and to be easily affected by the
contraction of the surrounding skeletal muscles to allow the blood in the vein
to flow.
Has valves: To allow the blood to flow in one direction and prevents its
backflow.
The vein has semilunar valves extended from the tunica intima.
¾ single layer of endothelium reduce frictional resistance to blood flow.
¾ Not folded as there is less stretching in veins.

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Capillaries

Functions:
• Allow rapid transfer of substances “as glucose & O2” between
the blood & the cells because they take blood near to cells.
Structure of a capillary and adaptation:
1. Thin wall (one cell thick): of squamous
endothelium. to shorten the distance for
faster diffusion of particles such as glucose
from blood to tissue fluid and CO2 from tissue
fluid to blood.

2. Has pores: located between endothelial cells


to allow movement of substances down
pressure gradient.

3. Large capillary network (capillary bed):


¾ Increase the surface area to give more

4. Narrow lumen (7μm):

¾ To bring blood as close as possible to all


cells helping faster exchange of substances
by diffusion. The lumen is the same size of
a RBC and to be very close to the cells.
¾ Slows down blood flow giving more chance for exchange of substances by
diffusion

Why is blood pressure in aorta higher than that in pulmonary


artery?
The heart muscle wall in the left ventricle is thicker than in the right
ventricle…..continue as before

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Artery Vein Capillary
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Picture.
T. Intima Present Present Present
T. Media Present & thick Present & thin Absent
Present; elastic
Present; mostly
T. Externa fibers & Absent
collagen fibers.

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collagen fibers.
Valves Absent One-way valves Absent
Lumen Narrow Wide v. small just allow a RBC
Blood
Pressure High Low Falling
Pulsation Pulsates Does not Does not
Blood Flow Rapid Slow Slow
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Cardiovascular diseases
Chapter 1C

🐾 Blood circulatory system:


Main transport system in mammals, it includes:
🐾 Heart: the pump which keeps the blood flowing through the vessels.
🐾 Blood vessels: tubes in which the blood circulate and never gets out.
🐾 Valves: to insure one way flow of blood in the right direction.
🐾 Blood.

🐾 this is where mammals birds and reptile , the blood passes twice through
the heart in one complete circuit through around the body.
”Closed: blood flows through blood vessels , e.g : arteries and veins and
doesn’t get out”
it includes
A- Pulmonary circulation. B- Systemic Circulation.

🐾 it starts from right 🐾 it starts from Left


ventricle Pumping ventricle pumping
deoxygenated blood out of oxygenated blood out of
heart to lungs and heart to body and returning
returning into left atrium into right atrium as
as oxygenated blood. deoxygenated blood.

🐾 Single circulation→ blood flow to the heart once in one complete circuit
e.g Fish.

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Disadvantages of Single circulation

Rapid fall in velocity and


pressure as blood leaves the gills.
.So slower delivery of oxygen for
respiration in tissues
pressure of blood too low for
efficient kidney function in
mammals.

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Advantages of double circulation over the single circulation:

🐾Mammal’s tissues are metabolically very active, which needs very quick
delivery of oxygen for respiration.
🐾 In Mammal’s lung capillaries blood loses a lot of its pressure.
In double circulation the blood returns back from the lungs to heart to raise its
pressure again before it goes to tissues, for effective transportation of oxygen.
🐾 In fish the low pressure blood returns from gills travel slowly around the
fish body.

Introduction: Heart
🐾 A muscular bag which pumps blood all over the body, made of cardiac
muscle that contracts and relaxes regularly. Heart is made up of four
chambers two upper chambers (atria) and two lower chambers (ventricles) the
right side of the heart is completely separated from the left side by a septum.

Why is left ventricle thicker???


🐾 Because the left ventricle pumps blood over a longer distance to the rest
of the body while the right ventricle only pumps blood with low resistance to
the lungs.

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Explain the relative thickness of heart chambers


🐾 The atria have thin muscle wall as they do not need to create high
pressure because they receive blood and deliver it to the ventricles a very
short distance.
🐾 The ventricles have thicker muscular wall because they need to create
high pressure to pump blood away from the heart.
🐾 The pressure in the left side of the heart and aorta is higher than the
pressure in the right side of the heart and pulmonary artery.
🐾 Septum prevents mixing of oxygenated and deoxygenated blood, also
allows the two circulations with different pressures to occur simultaneously.

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Structure of the heart:

1. Right atrium →receives deoxygenated blood from the body and contract to
pump the blood to the right ventricle. This is a short distance and so the wall of the
atrium is thin as there is little resistance.
2. Right ventricle →relaxes to receive the blood pumped from the right atrium
then contracts to pump the blood to the lungs.
3. Left atrium → receives oxygenated blood from the lungs.
4. Left ventricle→…then pumps the blood to all body organs except the lungs
5. Tendons→Tighten to prevent the AV-valves from turning inside out.
6. Papillary muscles→
contract so tighten more the tendons…
7. Vena cava→ brings deoxygenated blood from
all the body, except the lungs, to the right atrium.
8. Pulmonary artery→takes deoxygenated blood
to the lung.
9. Pulmonary vein→brings the oxygenated blood from the lungs to the left atrium.
[Link] valves and semilunar valves→→allow the blood to
flow in one direction and prevent its back flow.
[Link] artery→supplies the heart muscle cells with the nutrients they need.

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Cardiac cycle

1. Atrial Systole: (0.1 sec.) 2. Ventricular Systole: (0.3 sec.)


🐾 Atrial muscle contract. 🐾 AV valves close
🐾 Volume of atrium decreases. 🐾 Heart sound is heard due to
🐾 AV valves open A-V valves closure.
🐾 semilunar Valves close 🐾 Ventricle muscles contract.
🐾 Ventricular volume remains
the same as A-V semilunar
valves are closing.

3. Ventricular and atrial diastole: (0.4 sec)


🐾 Ventricle muscles relax. 🐾 semilunar valve close.
🐾 Another heart sound is heard due to closure of semilunar valves.
🐾 Blood pressure in the aorta remains high due to the recoil of the elastic
fibers in the aorta, this is the diastolic pressure in the aorta.
🐾 Pressure inside the atria increases. 🐾 Blood flows to the ventricles.

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Atherosclerosis

🐾 It is the condition of hardening the arteries and is a buildup of yellowish


fatty deposits (plaques) on the inside of the arteries which restricts the blood
flow through an artery or can block it.

🐾 Plaques are usually formed in the coronary arteries


and in carotid arteries (in the neck).

🐾 Plaque formation can be caused by high blood


pressure and chemicals in tobacco smoke.

🐾 Atherosclerosis usually occurs in arteries and not


veins because blood in arteries flows quickly under
high pressure, which puts more strain on endothelium lining the vessels
causing small areas of damage.
🐾 Once the damage has occurred, the body’s inflammatory response begins,
and white blood cells arrive at site of damages.

🐾 These cells accumulate chemicals like cholesterol, leading to a fatty


deposit known as atheroma.

🐾 fibrous tissue and calcium salts also build up around atheroma, turning it
into hardened plaque, making the artery less elastic (atherosclerosis).

🐾 The lumen for blood flow becomes


smaller because of plaque thus
increasing pressure, making it harder
for the heart to pump blood.

🐾 The raised blood pressure also


damages endothelial lining in other
areas and more plaques will form

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🐾 If an artery is narrowed by a plaque, blood builds up behind the plaque,


causing more pressure on artery and weakening it (aneurysm).

🐾 This weakened artery may be cut leading to internal bleeding (occurs


usually in the brain and aorta)leading to a decrease in blood pressure and
death.
🐾 Increased blood pressure can cause damage in organs like the eye, brain
and kidneys. The high blood pressure damages tiny blood vessels where
kidney filters out urea.
If the vessels feeding the kidney tubules become narrowed, the pressure
inside them increases and proteins maybe passed out of their walls to the
urine.

🐾 Also the blood vessels supplying the retina are damaged leading to
blindness.

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• Cardiovascular diseases: The most common are Angina and Myocardial


infarction. They are closely linked to the formation of atherosclerosis.

1. Angina:

🐾 Plaques develop slowly in coronary arteries, reducing blood flow to parts


of heart muscles beyond the plaques and the person is unaware that a
problem is developing.
🐾 Symptoms are first noticed during exercise when the cardiac muscles are
working harder and need more oxygen.
🐾 The narrowed coronary arteries can’t supply enough oxygenated blood
leading to anaerobic
respiration.
🐾 This causes pain in chest, extending to arms (particularly the left) and jaw
and breathlessness.
🐾 This is known as Angina and symptoms subside once exercise stops.
🐾 Angina can be helped by losing weight, regular exercise, low-fat diet and
not smoking. Symptoms can be treated by drugs causing rapid dilation of
coronary blood vessels.

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2. Myocardial infarction:

🐾 If one of the branches of the coronary


artery becomes completely blocked, part
of heart muscles will be starved of oxygen
and person will suffer from myocardial
infarction or heart attack.

🐾 Many heart attacks are caused by a


blood clot because of atherosclerosis.
🐾 The wall of an artery affected by plaque is stiffened, making it more
likely to suffer damage.

🐾 Platelets come into contact with the damaged surface of the plaque
and clotting cascade is triggered, or the plaque itself may break open
and cholesterol released triggers blood clotting.

🐾 A clot formed in blood vessel is known as thrombosis.

🐾 The clot that blocks the artery, starving the heart muscle beyond that
point of oxygen and nutrients, leading to heart attack.

🐾 There’s also chest pain like angina but more severe, may occur when not
exercising and lasts for hours. Death may occur very rapidly
with no previous symptoms or may take several days of feeling tired

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.

3. Strokes:

🐾It is caused by an interruption to the normal


blood supply in an area of the brain.
🐾 This may be bleeding from damaged capillaries,
blockage by a blood clot, an atheroma
or combination.
🐾 Sometimes blood clot forms somewhere else
in the body and carried in blood until it is stuck
in an artery in brain.
🐾 Symptoms of strokes depend on how much
of the brain is affected, including dizziness,
confusion, slurred speech, blurred vision or loss
of part of vision, numbness and maybe
paralysis (usually one side of the body).

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• Prevention and treatment:


🐾 The risk is the probability that a particular event will happen.
🐾 Perception of risk is based on a variety of factors which include familiarity with an
activity & how
much you enjoy the activity.
🐾 Mathematical risk plays very little part in building up the perception of risk. e.g.
mathematical risk of
an early death from smoking is high, yet people don’t stop smoking.
🐾 If the Perception of risk is higher than the actual risk, then unnecessary changes will
be made & if the
risk is higher than the perception then an action should be taken like changing the
lifestyle.
🐾 If you know the number of people in a population who are affected by a disease, it is
possible to
calculate the average risk of a person within that population developing this disease
(epidemiology).
🐾 The risk is higher in some people depending on their lifestyle and genes.
🐾 By looking at people who have certain things in common as smoking and comparing
their risk of
diseases with the average risk of whole population, it is possible to identify risk factors.
🐾 It appears that there are several factors that increase the chances of a person
developing CVD
(multifactorial disease).
🐾 Studies show that there’s a similarity between mortality from heart diseases or stroke
and smoking
patterns, suggesting a relationship between the two.

🐾 A link like this is called correlation and is defined as “a change in one variable is
reflected by a change in another, but this doesn’t prove that one is the cause of the other.”
🐾 Causation is not the same as correlation. Causation is a change in one factor will cause
a change in another.
🐾 Epidemiology is good at establishing risks and correlations, but further research needs
to be done to prove that a relationship is causation.

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• Identifying risk factors for CVD:

🐾 Large-scale studies have been undertaken to find the risk factors formany
common diseases including cardiovascular disease& there are 3 common
studies:
1. Longitudinal studies: a group of people are followed over time to see who
develops the disease.
2. Case-control studies: a group of people who have the disease are compared
with a group who donot have the disease.
3. Metadata analysis: Make a study from data of large amounts of studies

🐾 Features of a good study:


1. clear aim.
2. representative sample to make it statistically significant.
3. valid results: properly designed to answer a specific question
(like controlling the variables)
4. Reliable results: repeated by other scientists & similar results are obtained
(Peer review)
5. Precise: measurements with little differences between them.
6. Not biased: who carried & who funded the studies?
All these features help IN EVALUATING results

Risk factors that increase the chance of getting CVD:

1. High blood pressure


2. Obesity
3. Blood cholesterol and other dietary factors
4. Smoking
5. Genetic inheritance (non-modifiable risk factor). Some people inherit high tendency to
have high blood pressure of high blood cholesterol levels.
6. The risk of CVD is higher for men than women (non-modifiable risk factor) because
women are protected by estrogen hormone, which reduces plaque formation.
7. Age (non-modifiable risk factor). As the person gets older, blood vessels loose some of
its elasticity.

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1. Blood pressure:
🐾 The pressure of blood in the arteries varies as the heart beats, when the heart
contracts the pressure is highest and when it relaxes the pressure falls.

🐾 There is some friction between the blood and the inner walls of blood vessels which
slows down the blood flow, it is known as peripheral resistance.

🐾 Pressure decreases as blood passes by arteries as they are wide & offer low resistance
to blood flow.

🐾As the arteries subdivide to form narrower vessels, the peripheral resistance increases
but the pressure of blood in the vessels decreases, because the total cross-sectional area
of all the smaller vessels is greater than all the larger vessels.

🐾 When the smooth muscles in the artery contract


(in response to nervous and hormonal stimuli),
this makes the arteries constrict and the pressure
increases and when they relax the arteries dilate and the pressure decreases.

🐾 Changing pressure changes the flow rate so more blood is pumped to muscles during
exercise for example, permanent changes like narrowing in atherosclerosis can cause
permanent high blood pressure and severe health problems.

🐾 Blood pressure can be measured by sphygmomanometer.

🐾 Normal blood pressure is 120 mm Hg (systolic) and 80 mm Hg (diastolic).

🐾 The blood pressure varies along the day but a sustained pressure of 140/90 or more is
called hypertension and a sustained pressure of 90/60 is called hypotension.

🐾 Hypertension increases the risk of damaging endothelium thus increasing the risk of
atherosclerosis.

🐾Hypertension is due to genetic factors, obesity, increased salt in diet & smoking.

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2. Diet:
🐾 Many people have a positive energy balance. The excess food energy is converted into
a store of fat, so these people become overweight & then obese
(energy input is higher than the output). Being
🐾 obese increases the risk of CVDS.
🐾 Increasing salts in diet may also increase the risk of hypertension.
🐾 There’s a link between a diet high in saturated fats & risk CVDS show a correlation but
not a cause.

🐾 High intake of saturated fats was often associated with high blood cholesterol levels.
Cholesterol is involved in the formation of plaque in atherosclerosis, so this suggested a
cause for the link between a high fat diet and CVD.

🐾 One picture of relationship between fat in the diet & cholesterol in blood is
complicated by lipoproteins & conjugated proteins which transport lipids around the body:

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A. Low density lipoprotein (LDL's):§

They are made of saturated fats, cholesterol & protein & bind to cell membranes before
taken in tot he cells.
If there are high levels of some LDLs, your cell membrane becomes saturated & so more
LDL cholesterol remains in your blood.

B. High density lipoproteins (HDL's):

They are made of unsaturated fats, cholesterol and proteins.§ They carry cholesterol from
body tissues to the liver to be broken down, lowering blood cholesterol levels.§ HDLs can
help to remove cholesterol from fatty plaques on the arteries which reduces the risk of
atherosclerosis.§ The balance of these lipoproteins in blood is a good indicator of your risk
of developing

atherosclerosis & the associated CVDS.§ Blood cholesterol & LDL/HDL levels are not
simply related to diet. The way your body metabolizes the fats you eat & manages the
levels of cholesterol & balance the lipoproteins in your blood, all are linked to your genetic
make-up.§ Some people can metabolize any amount of fat & maintains a good balance of
LDLs & HDLs, others can’t.

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🐾 Antioxidants:

For some time, it was thought that the antioxidants found in fruits
and vegetables e.g. Vitamin A in carrots, Vitamin C in citrus fruits &
Vitamin E from leafy green vegetables protect the heart.§ However
recent studies have shown that the evidence for antioxidants being
good for your heart is in conclusive and there are some evidences
that antioxidants may cause harm.§ Antioxidants (like Vitamin C)
reduce the free radicals which cause cell damage to the
endothelium, thus reducing plaque formation & atherosclerosis.

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3. Obesity: Measuring a healthy weight:


A. The body mass index:

🐾 This compares your weight to your height


in a simple formula
This chart is for adults and there are special
charts for children and teenagers

🐾 The BMI became widely used for deciding


whether people are a healthy weight for their
height & so predicting the risk of CVDs.

🐾 Doctors feel that it is a very limited tool


because:

1. Most top athletes would have BMIs in the obese range, because BMIs makes no
allowance for the difference in composition of people’s bodies. Athletes have higher
proportions of muscles.

2. BMI values underestimate body fat in older people who have lost
a lot of their muscle mass.

3. There are also international differences with some groups having a greater/lower than
average risk of obesity-related diseases.

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B. The waist to hip ratio:


Scientists found this is the best measure of obesity &
also the best way to predict an increase of CVDs.

🐾 The waist is measured above the navel & the hips at the widest point.
The size of the waist (in cm) is then divided by the hip size(in cm)

🐾 If this ratio has a value above 0.9 in males and above 0.85 in females, then this is an
indicator of obesity.

🐾 The ratio could be underestimated as the tape could be held tighter around the waist
and loosely around the hips.

🐾 Obesity which increases the risk of CVDS & type 2 diabetes could be reduced in
population by:
1. Taxes on fatty food.
2. Educating children.
3. Town planning to make walking and cycling easier.
4. Promoting heathy diets.

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4. Tobacco Smoking:

🐾 The haemoglobin in the red blood cells carries carbon monoxide instead of oxygen,
reducing the amount of oxygen that gets to the cells.

🐾 Nicotine in smoke stimulates the production of the hormone adrenaline. This hormone
causes an increase in heart rate and the arteries and arterioles to constrict.

🐾 The chemicals that are found in smoke can cause damage to the lining of the arteries.

🐾 Smoking has also been linked with a reduction in HDL cholesterol levels.

🐾 In the studies to develop the drugs used to treat CVDs or any disease, a large group of
patients (1000–3000 people) is selected and divided randomly into two groups.

• One group is given the compound being investigated. The second is given an inactive
compound known as a placebo.
If there is an existing treatment for the disease, the standard treatment is given rather
than a placebo.
• It is important that neither the patients nor the doctors know who is having the
compound under investigation and
who is having the placebo or standard treatment. This is known as a double-blind trial.
• If the compound being investigated is effective, then the results will show a statistically
significant improvement in
the patients receiving the treatment compared with patients given the placebo or standard.

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Drug Mechanism of action Benefits Risks

[Link] Reduce blood pressure

Increases the volume of urine


produced, so getting rid of
excess body fluids so that the
A-Diuretic volume of the body falls, and
smaller volume pumped by If treatment is not
the heart monitored, it
might
decrease the
Makes the heart rate slower blood
and contractions less strong Reduces the pressure very
by blocking the response of risks of CVD and much
B-Beta blockers the heart to hormones like damage leading to falls
adrenaline which increases of organs and
heart rate and blood pressure because injury.
of increased Side effects:
Prevent nerve signaling blood pressure coughs,
Sympathetic nerves from CNS swelling of
C-Sympathetic which stimulate the ankles, impotence,
nerve inhibitors constriction of arteries and tiredness, fatigue,
raising blood pressure and constipation
Inhibit the production
Angiotensin hormone which
D- ACE inhibitors constricts the walls of blood
vessels and increases the
blood pressure
Side effects: joint
They block the enzymes in the hey can be used and muscles
liver responsible for the as a aches, nausea,
synthesis of LDL, they also precautionary constipation and
improve the balance of LDLs measure to diarrhea and
Statins muscle
to HDLs and reduce the reduce the risk inflammation
inflammation of the lining of of which might lead
the arteries atherosclerosis to death and liver
failure
T hey are foods and not drugs
that are like the structure of They can lower
Plant stanols and cholesterol. They reduce the the risk of
sterols amount of cholesterol developing
absorbed from the gut, thus heart diseases
reducing the amount of LDL by 25%
in the blood
Warfarin dose
should be
After monitored to
Warfarin (anticoagulant) surgery/blood reduce but not to
Anti-coagulant prevents prothrombin clot, they’re prevent clotting
and platelet formation- used to reduce and so as not to
inhibitory drug
Aspirin/clopidogrel reduce the blood cause internal
the sticking of platelets clotting too easy bleeding in
elderly. Aspirin
irritates stomach
lining

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Cell membrane and Transport


Chapter 4🐾

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Cell membrane:
Thickness 5- 10 nm (average 7 nm)
Phospholipid molecule
🐾 (S) means saturated, (U) means unsaturated
🐾 A polar means non-polar.
🐾 The unsaturated forms kink (makes the chain bent)

What causes phospholipids to be oriented in this way?


🐾 Phospholipid heads are hydrophilic , therefore they are directed
outwards to form bonds with the surrounding water.
🐾Phospholipid tails are hydrophobic therefore they are directed
inwards to be away from water and to form hydrophobic interaction with
each other.

Phospholipid functions
🐾 Basic structure of the membrane.
🐾 Act as barrier for most water soluble molecules, polar molecules and
ions.

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Cholesterol in cell membranes:


🐾 Found only in animal cells.
🐾Has hydrophilic head and
hydrophobic tails therefore
it can fit between phospholipids.

Importance of cholesterol
🐾 Regulate fluidity:
it prevents membranes from becoming too rigid in low temperature as
it prevents close packing of the phospholipid tails. Help to stabilize
membranes in high temperature due to its hydrophobic action with
phospholipid tails.
🐾 Controls leakage of water and other water-soluble molecules.
🐾 Its hydrophobic regions help to prevent ions and polar molecules
from free diffusion.
🐾 Necessary for mechanical stability of the membrane, as without it
membranes may break.

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Membrane proteins:
Types of proteins according to their position in the membrane
🐾 Intrinsic protein or integral protein which are found embedded in
the membrane
🐾 Extrinsic protein or peripheral protein which are found on the inner
or outer surface of the membrane.

Intrinsic protein are embedded between phospholipids ?


A) the region of the polypeptide facing the phosphate head ,
have hydrophilic R groups
B) the region of the polypeptide facing hydrophobic fatty acid
tails have hydrophobic R groups of amino acids .

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How proteins are held in the membrane


🐾 Their amino acids that have hydrophilic R-groups are directed
outwards forming bonds with the surrounding water.
🐾 Their amino acids that have hydrophobic R-groups are directed
inwards forming hydrophobic interaction with phospholipid tails.

Functions of membrane proteins:


🐾 Channel protein they are water-filled pores that form hydrophilic
pathway for movement of ions and polar molecules
🐾 Carrier protein for active transport.
🐾 Enzymes such as those found in membranes of epithelial cells of
villi, in thylakoid membranes and inner membrane of mitochondria.
🐾 Protein receptors and protein for hormonal attachment.
🐾 Cell recognition protein.
🐾 Some proteins are involved in changing the shape of the cell during
movement, engulfing or cell division by being attached to a system of
protein filaments known as cytoskeleton.

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Membrane carbohydrates:
🐾 Carbohydrates with lipids form glycolipids , and with protein form
glycoprotein.
🐾 Glycoprotein and glycolipids are found in the outer surface of the
membrane forming hydrogen bonds with the surrounding water and this
helps to stabilize the membrane.
🐾They may act as receptors that can bind with substances such as
hormones.
🐾 They may act as antigens for cell recognition.

Notice:
🐾 The carbohydrate chains form sugary coating to the cell known as
glycocalyx.
🐾 In animal cell the glycocalyx is formed mainly from glycoprotein
while in plants it is mainly glycolipid.

Over all function


1. Act as receptors
2 form hydrogen bond with
water to help stabilize the
membrane .
3. Act as enzymes
4. Act as transport proteins
5. Antigens ( cell
recognition)
6. Allow cell to cell adhesion

🐾 The goblet cells produce a lot of mucus(glycoprotein) so they


have a lot of Golgi bodies for protein modification (glycosylation )

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Fluid mosaic model


This model of membrane structure is known as fluid mosaic model :
🐾 they Fluid because individual phospholipid molecules and protein
molecules move around by diffusion with their layer, vibrate and can
exchange position with each other within their monolayer.

🐾 Mosaic to describe the pattern produced by scattered protein


molecules among phospholipid heads when the membrane is viewed
from above.

Practical evidence for this model:


🐾 Chemical analysis shows that it contains proteins, lipids,
phospholipids , glycoproteins and glycolipids.

🐾 Presence of protein channels account for membrane permeability for


ions and polar molecules.

🐾 Using electron microscope and proper staining the membrane


appears as two dense lines separated by a space
(trilaminar appearance which means three layers), the two dense lines
are the phospholipid heads.

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Factors affecting fluidity of membranes:


🐾 The more The unsaturated fatty acids in the phospholipid tails, the
more fluid the membrane, because unsaturated fatty acids are bent
forming kink and therefore phospholipid molecules fit together more
loosely.

🐾 Phospholipid tail length the longer the length, the less fluid the
membrane.

🐾As temperature decreases, membranes become less fluid, therefore


bacteria respond by increasing unsaturated fatty acids in their
membranes.

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Movement in and
out of the cells

Movement of substances into and out of cells


1-Diffusion 2-Osmosis 3-Active transport

Diffusion
🐾It is the net movement of particles such as molecules from a region
where they are at a higher concentration to a region with a lower
concentration ( down their concentration gradient ),
using energy from the random movement of particles.
🐾 Diffusion is a passive process as it does not use energy from a living
structure.

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Simple diffusion
🐾 Type of diffusion which takes place without need for transport
protein such as channel protein or carrier protein.
🐾 Example diffusion of particles in air, water or through phospholipid
bilayer.

Factors affecting diffusion


1-Temperature
Increasing temperature leads to an increase in rate of diffusion as
molecules gain heat energy and use it to increase their kinetic energy so
can move and diffuse faster.

2-Size of molecule Its increase decreases rate of diffusion and vice versa
because larger molecules need more energy to diffuse.

3-The steepness of the concentration gradient


Increasing difference in concentration of a certain molecule or ion
between two points leads to an increase in rate of its diffusion and vice
versa.
4-Surface area across which diffusion is taking place
Its increase leads to an increase in rate of diffusion.

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Active transport
🐾 It is an energy consuming transport of molecules or ions from
regions of their lower concentration to regions of their higher
concentration (against their concentration gradient).
🐾 It is achieved by transport proteins in cell membranes sometimes
known as carrier protein which obtain energy released due to hydrolysis
of ATP molecules which are produced as a result of respiration.
🐾 Carriers use energy to move or to change their 3D shape to carry
molecules or ions against their concentration gradient.

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Factors affecting active transport


🐾Oxygen concentration Increases rate of active transport as it is used
in production of energy by aerobic respiration.
🐾Mitochondria
🐾Cell surface area as more carriers can be used.

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osmosis
🐾It is the diffusion of water molecules from region of higher water
potential to region of lower water potential (down a water potential
gradient) through a partially permeable membrane.

🐾Partially permeable membrane is a membrane which allows only


certain molecules to pass through it.

Water potential

🐾 It is the tendency of water molecules to move from one place to


another.
🐾 The place or the solution from where water molecules move is said
to be of higher water potential.
🐾 The highest water potential is that of the pure or distilled water, it is
zero.
🐾 By increasing solute in water, water potential decreases

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🐾 Isotonic solution a solution of equal osmotic potential (OP)


or concentration to a cell
🐾 Hypertonic solution a solution of higher OP (or concentration)
than a cell
🐾 Hypotonic solution a solution of lower OP (or concentration)
than a cell

When the cell is turgid :

🐾 Water enters, causing solute potential to decrease and pressure


potential to increase and water potential is zero because solute potential
which is negative becomes equal to the pressure potential which is
positive.

In plasmolysis:
🐾 This is where the cell membrane detaches from the cell wall and it is
irreversible due to excessive water loss

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Cytosis ( bulk transport)


🐾 The process of moving substances into or out of the cell using
vesicles.
🐾 It is an active process as energy from ATP is needed.
🐾 It is rare in plant cells as there is cell wall that restrict the process.

Types of cytosis
1-Endocytosis → It is the uptake of materials into cells by inward folding
of the cell surface membrane to form sacs of membrane that separates
from the cell surface membrane to form vesicles within the cytoplasm,
using energy from ATP to move the cytoplasm and membranes.
(The formed vesicles are known as endocytic vesicle or phagocytic
vesicles.)

Note!
During exocytosis the length of the cell membrane increase but during
endocytosis the length of cell membrane decreases !!! Paper 1 TRICK

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2-Exocytosis

🐾 The process of moving substances out of the cell using vesicles.


🐾 In this process the vesicle containing the substance is moved
towards the cell surface membrane with the help of microtubules using
energy from ATP, the vesicle fuses with the cell surface membrane
releasing its contents.
🐾 Release of enzymes out of a gland cell takes place by exocytosis.

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Gaseous exchanges

1. The nose and mouth:


🐾 Air can enter the body through either the nose or mouth, but it is
better to breathe through the nose
because it allows the air to become warm, moist and filtered. Hair in
the nose traps dust particles.

2. The trachea:
🐾 From the nose or mouth, the air then passes into the trachea.
The trachea has rings of cartilage around it
to keep it open and to provide support.
🐾 At the top of trachea is a piece of cartilage called epiglottis
which closes the trachea and stops the food
going down the trachea during swallowing.
🐾 Just below the epiglottis, is the larynx (voice box).

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3. The bronchi:
🐾 The trachea is divided into two branches called bronchi (single
bronchus), one bronchus goes to each
lung, which then branches out into bronchioles.
🐾 The trachea and bronchi are lined with ciliated epithelium with
goblet cells.
🐾 The goblet cells secrete mucus, which is sticky that traps dust
and bacteria, the cilia sweep the mucus
together with dust and bacteria up back to the throat.

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4. The alveoli/air sacs:

🐾 These are the gas exchange surfaces, where oxygen diffuses


from the tiny capillaries surrounding the alveoli into the blood and
carbon dioxide diffuses the other way.

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🐾 The alveoli are adapted for a gas exchange by having:

A. Alveoli are thin walled (one cell thick wall called epithelium) to
minimize diffusion distance for gas exchange.

B. Alveoli have a large surface area to increase the rate of diffusion


of gases, to compensate low surface area to volume ratio.

C. Alveoli are covered with many capillaries for gas exchange.

D. Blood flow within the capillaries maintain steep concentration


gradient with alveoli.

E. Alveoli are well ventilated to maintain a steep concentration


gradient with blood.

F. Alveoli have moist surface because diffusion takes place with


gases when they are in solutions.

G. Lung surfactant is a phospholipid coating the alveoli & prevents


its collapse maintaining high surface area.

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Enzymes
🐾

1. Enzyme is a globular protein molecule (3D- shape) with a depression


known as active site.

2. Each active site has its specific shape which exactly fits a
substrate with a complementary shape to the active site
forming an enzyme-substrate complex.

3. When substrate fits in the active site the enzyme lowers the activation
energy of the reaction, forming the products.

4. When the products are formed they are released of the active
site and enzyme is free, and can fit with more substrates.

5. This is called Lock and Key mechanism in which substrate represents the
key fitting into an enzyme which represent the lock

Enzymes Can break bonds → Catabolic Reaction


Can Form bonds → Anabolic Reaction

Catalyst : This is a compound that speeds up that rate of chemical reactions


without being used up or changed

Enzyme is a biological catalyst which lowers the activation energy

🐾 Enzymes can be intracellular or extracellular

Note
🐾 All enzymes should have at least tertiary structure to have a
3D shape of active site.
🐾 Quaternary structure is optional.

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Activation energy

🐾 it is the minimum amount of energy needed to start the reaction


🐾 The enzyme provides an alternative pathway by bringing
reactants close to the active sites where are groups of amino acid in
the active site interacts with substrates to put stress on it.

Induced Fit

🐾 This is where the substrate is partially complementary to the active


site of the enzyme so , the substrate mold and folds to change the
shape of the enzyme and make it or complementary to
give enzyme substrate complex .

🐾 The substrate is held by


temporary hydrogen bonds
to the active site of the
enzyme.

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🐾 To measure the rate of enzyme-controlled reaction we either


measure the decrease in substrate per unit time or increase in
the product concentration per unit time

🐾 Set a constant Temperature and pH and plot a graph →


time on x-axis , dependent variable on y-axis

🐾 Each enzyme has an Optimum

temperature at which the enzymatic

activity is reached to maximum.

In Humans: at around 37 C

In plants: around 28 C to 30 C.

Bacteria living in hot spring: at

about 75 C.

Denaturation is always irreversible.

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🐾 The activity of enzyme is affected by four factors


1-Temperature 2- pH
3-Enzyme concentration 3- substrate concentration

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Temperature

Effect of temperature on enzyme activity

🐾 Rising temperature up to optimum temperature increases the rate of the


reaction because;
Molecules (enzymes and substrates) gain more kinetic energy, move around
faster.
More collision occurs between enzyme and substrate molecules, increasing
the chance of substrate to fit into active site (more effective collision).
🐾. At optimum temperature the enzyme works at its fastest rate.

🐾 Rising the temperature above the optimum, slows down the rate of the
reaction because the enzyme molecules start to denature (lose the shape of
active site).

Note
Peptide and disulphide bonds are covalent so they never breakdown
during temperature or pH change.

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pH

🐾 The pH of the solution affects the shape of the active site of enzymes.

🐾 Each enzyme has specific pH at which it works maximum known as optimum

pH, if the pH increases or decreases →


the rate of the reaction slows down as enzyme starts to lose its shape (denature),
which means that substrate no longer fits the active site.

🐾 Changes in pH means change in hydrogen ion conc in a solution.


so the charge on R Group is change at the active site.
🐾 Weak bonds such as (Ionic -Hydrogen- Hydrophobic interactions)
will break down so the enzyme denatures.

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Enzyme
concentration

🐾 Increasing enzyme concentration will cause more


collision with the substrate molecules and increase the rate
of reaction after a certain concentration
(saturation point → the enzyme concentration is no longer a
limiting factor)

Note!
Limiting factor : is the factor that Limits the rate of
reaction in many physiological processes

We do we measure the initial rate of reaction ?

→ at the beginning of the reaction , the substrate


concentration is high and not a limiting factor so substrate
conc. Decreases and rate of reaction is slow.

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Substrate
concentration

🐾 Increasing the substrate concentration increase


the rate of reaction as there are more successful
collision and more enzyme-substrate complexes are
formed . However, above a certain substrate
concentration any increase in the substrate will no
longer affect the rate of reaction, since the enzymes
no longer acting as a limiting factor

At maximum substrate concentration the pH is reached , all


enzymes active sites are occupied

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Investigate the effect of catalase on hydrogen peroxide

🐾 Catalase is an enzyme which is found in almost every living cells, it


catalyses the
breakdown of H2O2 (a toxic product of metabolic reactions in many cells) to
nontoxic products

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Initially , The rate of reaction is high and a lot of oxygen is produced


because the substrate is in excess and more collisions at the end the
graph levels off and all substrate is used up.

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Molecules that can reduce the rate of a metabolic reaction

Types of inhibitors
1-Competitive ( or active site directed inhibitor)

🐾 A molecule has a similar shape to the substrate, so can fit in the active site instead of
the substrate.
🐾Increasing concentration of the substrate can reduce the effect of this type of
inhibitors
because it increases the chance for formation of enzyme-substrate complex.
🐾 Its effect is reversible ( not permanent) because it can be reduced by increasing
concentration of the substrate.

Km increased
Affinity ( 7ob el enzyme to substrate ) decreases
Vmax ( percentage of working enzymes ) unchanged

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2-Non –competitive (or non- active site directed inhibitor.)


🐾 A molecule that can bind with a site other than the active site (in allosteric site).
🐾 If the inhibitor binds with allosteric site it can disrupt hydrogen bonds and
hydrophobic interactions that hold the 3D- shape of the enzyme and
therefore can affect its active site.
🐾 Not affected by increasing substrate concentration.
🐾 Usually irreversible if binds permanently.

Km unchanged
Affinity ( 7ob el enzyme to substrate ) unchanged
Vmax ( percentage of working enzymes ) decreased

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Note
Non-competitive inhibitor may bind to the enzyme in presence
of substrate in the active site of the enzyme (means can bind
to enzyme /substrate complex )and can change the globular
shape of the enzyme so that the products cannot leave the
active site of the enzyme.

V max
🐾 The level at which all the enzyme molecules are bound to substrate
molecules ( means that enzymes are saturated with substrate molecules)

Km
🐾 The Michaelis-Menten constant is used to compare each enzyme's
affinity to its substrate.
🐾 It is defined as the substrate level at which the reaction rate is half
Vmax (V refer to velocity)
The higher the affinity of the enzyme for the substrate
🐾 The lower the substrate concentration needed for this to happen,
( means that the higher the affinity the lower the Michaelis-Menten
constant and the quicker the reaction.)

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Immobilization

The process of immobilization


🐾 Enzymes are attached to insoluble materials so that the enzyme can be
held in place during the reaction also can be removed and separated from the
products to be used again.

Example of immobilized enzymes


🐾 Lactase which is an enzyme used to act on the milk sugar lactose to be
digested into glucose and galactose which are mono-saccharides that can be
absorbed in ilium.
🐾 Many people have problems in digesting lactose of milk due to inability to
produce lactase enzyme ( this condition is known as lactose intolerance).
🐾 To overcome this problem immobilized lactase enzyme is used to digest
lactose of milk before being used.

Immobilizing enzymes using alginate beads:


🐾 Enzyme is mixed with a solution of sodium alginate ,this mixture is
dripped (usually through
a syringe) into a solution of calcium chloride so that the sodium ions are
displaced by the calcium ions, resulting in the formation of hard, insoluble
beads of calcium alginate, in which enzyme molecules are trapped.
🐾 The alginate beads are washed to remove sodium chloride and are left to
harden further.
🐾 Beads are placed in a suitable container forming a column of beads.

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Advantages of immobilization
1. Enzymes can be recovered and used over and over again which is useful
when the enzyme is expensive or difficult to produce.

2. The product will not be contaminated by the enzyme because the


immobilized enzyme can be separated easily at the end of the process.

3. The matrix protects the enzyme as it acts as a physical barrier so that the
enzyme is more stable at extremes of pH and temperature.

4. Their effect can be controlled accurately as the beads containing enzymes


can be reduced in number or more can be added during the course of the
reaction.

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Protein Synthesis
and DNA replication

The structure of DNA:


🐾 Double stranded.

🐾 Contain hydrogen bonds.

🐾 Made of: A T G C bases.

🐾 Has deoxyribose sugar in its mononucleotides.

The structure of RNA:


🐾 Single stranded.
🐾 Contain no hydrogen bonds.
🐾 Made of: A U G C bases.
🐾 Has ribose sugar in its mononucleotides.

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Structures of RNA

The structure of mRNA:


🐾 Straight & unbranched shape.
🐾 Codon (A sequence of three DNA or RNA nucleotides that corresponds
with a specific amino acid).
🐾 No amino binding sites.
🐾 No hydrogen bonds.

The structure of tRNA:


🐾 Clover leaf shape.
🐾 Anticodon
(A sequence of three bases that are complementary to a codon).
🐾 Has an amino acid binding site.
🐾Has hydrogen bonds.

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Structures of Nucleotide

🐾 Pentose sugar (5-carbon sugar).


🐾 Phosphate group.
🐾 Nitrogen containing base.

Note
🐾 Phosphodiester bond is formed during condensation reaction ,and
water molecule is removed.’

🐾 It is broken down by hydrolysis reaction.


🐾 It links the phosphate of one nucleotide to carbon 3 of pentose
sugar of adjacent nucleotide.
🐾 DNA formed is a double helix made of two polynucleotide chains
that twist around each other.
🐾 The two strands are joined by hydrogen bonds that links
nitrogenous bases.

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Nitrogen containing bases

Note
🐾 Uracil is found only in RNA
🐾 Thymine is found only in DNA
🐾 Structure of bases is not required , only you have to know that purine
is larger in size , it is a double ring structure while pyrimidine is smaller it
is formed of one ring only

Nitrogen-containing bases are joined together by hydrogen bonds


In DNA
🐾A binds with T by two hydrogen bonds
🐾C binds with G by three hydrogen bonds.
In RNA
🐾A binds with U by two hydrogen bonds
🐾C binds with G by three hydrogen bonds.

→ The Length of the base pairs is always constant (3 rings)

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DNA Replication

🐾it is called semi-conservative replication and it happens during s-phase of


interphase.
🐾Semi-conservative replication : this is where two DNA molecules are
produced from 1 and in each DNA molecule there is one old parental strand
that act as a template and add new strands .

Steps of DNA replication :

1-DNA unwinds, unzips and hydrogen bonds between nitrogen-containing


bases break by the effect of helicase enzyme.

2-Free nucleotides are activated by adding two extra phosphate groups from
ATP to provide energy for binding.

3-The activated nucleotides are added to DNA strands such that A binds with
T by two hydrogen bonds and C binds with G by three hydrogen bonds.

4-DNA polymerase enzyme catalyzes joining of nucleotides of the new strand


by formation of phosphodiester bonds while the extra phosphate groups of
activated nucleotides are released.

Why it is known as semi-conservative method?

Because each of the produced DNA molecule contains half ( one


polynucleotide chain) is conserved ( old , from parent DNA) while the other is
newly formed.
Importance of DNA replication before mitosis ( during interphase)
Enables each of the produced daughter cells to receive identical copy of DNA
like that of the mother cell.

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Note
🐾DNA polymerase :
1- Type 1 will repair any mismatched base pairs
2- Form phosphodiester bond in the LEADING strand
3- It will add nucleotide 1 by 1 into 5 to 3 direction continuously
4- In the lagging strand the Okazaki fragments will be joined nby
ligase enzyme
🐾The hydrogen bonds are formed alone ,Without an enzyme by
complementary base pairing.
🐾A full DNA turn has 10 base pairs.

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Experimental evidence of Meselson and Stahl’s DNA replication theory

First of all, the DNA is placed in an N15 medium, causing all of it to be


made out of N15.

Then, it is placed in an N14 medium and allowed to replicate, where half


of the strands will be made out of N15 (heavy medium) and the other
half will be made out N14 (light medium) (50%: 50%).

Lastly, the strands will be allowed to replicate again in the N14 medium,
causing 3 quarters of them to be made out of N14 (light medium) and 1
quarter of them to be made of N14 and N15 (moderately heavy
medium).

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Genetic Code
Gene: Length of DNA with specific sequence of bases that code for specific
proteins.
Genetic code : It is the sequence of bases that code for proteins in form of
Triplets.
1- UNIVERSAL:
Triplet codes for the same amino acids In all Living organisms.

2-DEGENERATE :
More than one codon can code for more than one amino acid ( we
have 4 bases and three bases in each Triplet so 4 to the power of 3
is 64 codons 43=64 ,but all of them are coding except 3 UAG , UAA,
UGA

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3-DON’T OVERLAP:
No base from a given triplet will be a part of the adjacent triplet.

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Protein synthesis

A) Transcription in Nucleus :

🐾 The process of synthesis mRNA using the non - coding or non reference
DNA strand of a gene as a template.
🐾 It takes place in the nucleus.
🐾 The template strand is the non-coding strand which has complementary
base sequence to mRNA

Steps of transcripton:
🐾 The gene needed to be transcribed unwinds, unzips and hydrogen bonds
between its bases
break.
🐾In presence of RNA polymerase enzyme, activated RNA nucleotides pair
with exposed
bases of the non-reference or non coding strand or antisense strand.
🐾 The formed strand of mRNA leaves the nucleus through nuclear pores
before mRNA Splicing occurs.
🐾 DNA winds again.

The DNA hydrogen bonds form and break twice in Transcription.

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Translation in Ribosomes
(It is given this name because in this step the DNA code is translated into an
amino acid sequence.)

🐾 It is the process of synthesis of a polypeptide using the information


encoded in mRNA.
🐾 Takes place in the ribosome.

Steps of translation
🐾 mRNA binds to the small subunit of a ribosome, and six bases (two codons ) of this
mRNA become exposed to the large subunit.

🐾 The ribosome moves along mRNA until it reaches the start codon (AUG), a tRNA with
the complementary anticodon (UAC) forms hydrogen bonds with this codon.
🐾 A second tRNA molecule with an anticodon complementary to the next codon reaches
and pairs with the codon.
🐾 The two amino acids carried by the two tRNA are joined by peptide bond catalysed by
peptidyl transferase enzyme which is found in the small subunit.

🐾 The ribosome moves along mRNA and the process is repeated until it reaches any of
the stop codons where the formed polypeptide chain is released

Notice
🐾 Two tRNA molecules fit onto the ribosome at any one time.
🐾 During translation mRNA binds to the small subunit.
🐾 Transcription begins when RNA polymerase binds to a control region called promoter
till it reaches terminator sequence or stop codon.

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tRNA is specific and reusable


unlike mRNA.

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Mutation
Vocabulary
Mutation: This is a random , sudden and rare permanent change in the
DNA of an organism.

Point mutation: is a change in one of the bases in the DNA.

Chromosomal mutation: a change in the position of an entire gene


within a chromosome.

Whole-chromosome mutation: the loss or duplication of a whole


chromosome.

Variation: difference between organisms due to a difference in genes or


due to the environment that they live in.

Mutagen: anything that increases the rate of diffusion.

There are three types of mutation,


insertion →in which a new base is inserted into the original code,
substitution → in which one base in the original code is changed for
another new base, and lastly,
deletion →where one of the bases is removed from the original code
It is important to note that mutations can be disadvantageous or
advantageous depending on the site of the mutation and what exactly
changes.

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For example,
a mutation may happen in the DNA, but the product of the mutation is
the same as the original code, this is because the mutation may have
happened in a non-coding part of the DNA, or a mutation did happen in
the coding part of the DNA, but due to codons being degenerate, it
yielded the same amino acid, and so, the same product (silent mutation).
Positive mutations are the reason behind variation, and the reason why
your brother or sister differs from you.

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🐾 Your Notes

*Describe the process of transcription? (4 Marks)


First of all, part of the DNA strand unwinds. Then, RNA polymerase will
stimulate free mononucleotides (of bases A, U, G, C) to align in front of
the antisense strand (which acts as a template) according to
complementary base pairs, to transcribe a copy of the sense strand.
Afterwards, enzyme ligase stimulates formation of phosphodiester bonds
between the mononucleotides on the mRNA. Lastly, the mRNA detaches
from the DNA antisense strand, and exits the nucleus
*Describe the process of translation? (5 Marks)
mRNA carries the copied genetic code to the ribosome which is made
from rRNA where tRNA will attach to a specific amino acid (anticodon)
and transfer it to the mRNA (codon) in a complementary base-pairs
manner, then peptide bonds will be formed between amino acids
forming polypeptide chains.

*Describe the process of DNA replication? (4-5 Marks)


First of all, DNA helicase will cause the two strands of DNA to unwind by
breaking the hydrogen bonds between the nitrogen bases.
Then, DNA polymerase will stimulate the free mononucleotides to align
in front of the template strand according to complementary base pairs.
Afterwards, enzyme ligase will stimulate the formation of
phosphodiester bonds between the mononucleotides on the new strand.
Lastly, the two strands automatically coil up through formation of
hydrogen bonds, forming a new DNA strand identical to the original.

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Inheritance

It is the transmission of genetic information from generation to generation .

Chromosome
- A coiled thread of DNA and protein found in the nucleus of cells,
it is made up of string of genes.
- Every species is characterized by having a certain number of chromosomes.

Example : humans have 46 chromosomes in every cell of the body except for
gametes ( gamete has only 23 chromosomes.)
- Chromosomes can be seen clearly in the cell by the light microscope
only when the cell is dividing because at this stage they become shorter and
fatter.
- Chromosomes carry genes.

Gene
-A specific length of DNA occupying a position called locus in a chromosome
which codes for making a particular protein.

Allele
- Allele is one of two or more different
forms of a gene.
Example :
The gene which codes for fur color in an animal may have two forms (alleles),
a form (an allele) codes for white color and a form ( an allele) codes for black
color.

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Note
All body cells in an organism contain the same genes, but in each cell
only the genes needed by the cell are expressed.
Example
Cell in salivary gland and cell of stomach each contain all the genes on
46 chromosomes but in salivary gland the gene coding for production of
amylase is expressed while in stomach the gene coding for production
of pepsin is expressed

Note
Somatic cells → Diploid
Gametes (Sperm or egg) →Haploid

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Homologous chromosomes

🐾 Chromosomes which carry genes for the same characteristics in the same
position.
🐾 Have the same position of centromere.
🐾One comes from the father (paternal) while the other comes from the
mother ( maternal).

Types of chromosomes
Autosomes Sex chromosomes

- Are the chromosomes responsible - Are the chromosomes responsible


for different characteristics except for sex determination.
sex - Are represented by X and Y .
(Y is shorter than X).
- In males X and Y chromosomes
are present.
- In females two X chromosomes re
present

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The chromosomal structure in


humans and sex determination

Who determines sex ?


Males because they produce gametes that contain the chromosome Y.

Monohybrid inheritance
Means that cross between organisms which show contrasting variations of
only one characteristic.

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Example
Black animal crossed with a white one.
If all their offspring is black, the allele for black is said to be dominant and is
represented by a capital letter (B) while the allele for white is recessive and is
represented by the same letter but small (b)
Each individual receives two alleles for each characteristic
- One from the father and one from the mother.
- If the two alleles are identical for example BB or bb the individual is called
homozygous.

- If the two alleles are different for example Bb the individual is called
heterozygous

Dominant allele
An allele that is expressed on the phenotype of an organism if it is present
whether the organism is homozygous or heterozygous.

Recessive allele
- An allele that is only expressed when
there is no dominant allele of the
gene present.
- The organism which has the recessive
phenotype is always homozygous

Test Cross
To know the genotype of an individual is homozygous dominant or
heterozygous , you cross with a homozygous recessive individual
IF the offspring phenotypes are all the same , then it is
homozygous dominant
If there is a recessive phenotype showing then it is heterozygous

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Genotype
It is the genetic makeup of an organism in terms of the alleles present. The
genotype of the organism is homozygous or heterozygous.

Phenotype
It is the physical or other features of an organism due to both its genotype
and its environment.

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Example
An animal its fur color is black, therefore:
- Its phenotype is back
- Its genotype may be :
• Homozygous black ( BB ).
• Heterozygous black ( Bb.)

Homozygous
Means having two identical alleles of a particular gene.

Heterozygous
Means having two different allele

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Results of simple cross

1- If two homozygous individuals with different phenotypes are crossed

2- If two heterozygous individuals with the same phenotype

3- If a heterozygous dominant and homozygous recessive are crossed

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Karyotype

A diagram showing all the chromosomes found in the nucleus of a


human cell.
- They are arranged in 23 pairs.
- The last pair in the diagram (position 23) is the sex chromosomes.
- X chromosome is taller than Y.
- Y is dominant over X.

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Comment on the given Karyotype and state the gender of


this person.

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Complete dominance: The effect of the recessive


allele is completely masked by the dominant allele.

Codominance: Both alleles can show themselves equally


on the phenotype of the offspring.
Example: Blood group AB. A & B are dominant over O.
While, they show codominance to each other.

Blood group (phenotype) Genotype


Blood group A IAIA or IAIO
Blood group B IBIB or IBIB
Blood group AB IAIB (Co-dominance)
Blood group O IOIO

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Example: CR is the allele for red color while CW is the allele for white color. Draw a genetic
diagram for the mating of a red flower with a white flower.

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Comparison between the two types of inheritance:

- In complete dominance, the effect of the recessive allele is completely masked by the
dominant allele. While in codominance both alleles can show themselves equally on
the phenotype of the offspring.

- In complete dominance, there are two possible phenotype options for a certain
individual, while in codominance there are three possible phenotype options.

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Sex Linkage

🐾 It is the inheritance of genes carried on the sex chromosomes .

🐾 The sex linked alleles are carried on X chromosome but not on the Y
chromosome
because X is longer than Y therefore it can carry more alleles .

Examples
1- Haemophilia:

🐾 It is a disease in which the blood of the affected person has a reduced


ability to clot .

🐾 This gene therefore has two alleles :


1-The normal allele , it is dominant.
2- The allele for haemophilia , it is a recessive allele.

If the allele codes for normal is represented by (N) while the allele codes for
haemophilia is represented by (n)

A male his genotype XNY is normal


A male his genotype XNY is affected and not a carrier as one recessive allele is
enough to show the recessive characteristic .

A female her genotype XNXN is normal.


A female her genotype XNXN is carrier.

Therefore the hemophilia males are more than the females as one recessive
allele is enough to develop the disease .

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2-Red - green color blindness

🐾 It is a disease caused due to a recessive allele of a sex linked gene .

🐾 In this disease the person cannot distinguish the


green, yellow , orange and red colors .

🐾 This disease can be detected by using a card contains the above colors in
a certain pattern and so the infected person cannot detect this pattern .

🐾 It is due to a defect in one of the three groups of color sensitive cones .

If the allele for normal is (B or any other capital letter) so the possible
genotypes of males are:

normal male : XBY


affected male : XbY The possible genotypes of females are:
normal female : XBXB
carrier female : XBXb
affected female: XbXb

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Cystic Fibrosis
🐾 The role of osmosis: For the easy sweeping of the mucus by the cilia of
the ciliated cells, some water mustgo out together with the mucus by
osmosis, from the cells secreting mucus, this happens by:

1. Chloride ions (Cl-) are actively transported into the epithelial cells that line
the respiratory tubes from the tissue fluid surrounding them, this is known
as chloride pump.

2. As a result of this pump, Cl- conc. in epithelial cells is high, this creates a
conc. gradient between the cell contents and the fluid on the surface of the
epithelium inside the airway

3. Cl- diffuses out of the cells into the fluid by diffusion through protein
channels that pass Cl- in the membrane known as cystic fibrosis trans-
membrane regulatory channel proteins (CFTR).

Those CFTR channels need ATP to open, but the process isn’t active transport
as molecules move down conc. gradient.

4. When CFTR is working, it inhibits the sodium ions from entering through
sodium channels, this will increase the conc. of sodium and chloride in the
fluid lining the airways, that will be always higher than the cytoplasm of
epithelial cells.

5. This allows water to move out to the liquid lining by osmosis. On another
side water is moving into then epithelial cells by osmosis from the tissue fluid
on another side

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6. This water moving out mixes with the mucus which is also produced by
epithelial cells and keeps it runny to be easily moved by cilia.

7. Runny mucus is also important in opening narrow ducts and tubes along
which enzymes pass from pancreas to the gut for example

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Cystic Fibrosis:

🐾 It’s a life-threatening condition that causes severe respiratory


and digestive problems as well as salty
sweat and often infertility.
🐾 The chloride transport systems of exocrine glands including the
mucus secreting glands of the airways
if the lungs, gut, reproductive system and sweat glands don’t
function properly, as a result thick sticky
mucus is produced which causes most of the symptoms.
🐾 CFTR protein contains 1480 amino acids. The gene that codes
for it is also large and found on
chromosome 7
. Around 1000 different mutations in this gene might occur,
affecting the CFTR protein causing cystic fibrosis.
🐾 All of mutations are recessive and the most common mutation is
known as DF508.
🐾 This means that chloride ions build up in the cells instead of
moving out and as a result water doesn’t
move out of the cells to the mucus, which is outside the cell, so
water moves in by osmosis making
mucus thicker and stickier.

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• Symptoms of cystic fibrosis

o The respiratory system:

🐾 The thick sticky mucus accumulates in the bronchioles, flow of


air into the alveoli and without
treatment the lungs become filled with mucus gradually reducing
the surface area of gas exchange.
🐾 The infected person will suffer from severe coughing, feel
breathless and will face shortage of oxygen
leading to decreases rate of respiration and release of energy.
🐾 Bacteria and other pathogens become trapped in mucus and
don’t move out of respiratory tracts
leading to infections.
🐾 When the surface of epithelial cells contains thick mucus and
less water, the surface of cells become
dehydrated and lose their antibacterial properties because white
blood cells and their antibodies
can’t function effectively in thickened mucus, but this can be
reversed by rehydration.

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o The digestive system:”

🐾The digestive system is responsible for making enzymes that


break down complex food molecules into
small molecules which are absorbed through the villi.
🐾 Some enzymes are secreted by the line of the gut and some by
associated organs like pancreas.
🐾 The enzymes pass from the pancreas to the duodenum of the
small intestine through the pancreatic
duct. Thin mucus is produced by cells lining this tube in same way
as produced in the lung pathways.
🐾 A faulty CFTR protein means that the mucus in pancreatic duct
is very thick and sticky, blocking the
pancreatic duct and preventing the enzymes from reaching the
duodenum.
🐾 This prevents the digestion of large nutrients and inability of
body to get enough nutrients from food.
🐾 It also leads that the digestive enzymes get back to the
pancreas, digesting and damaging its cells.
The affected cells in pancreas might be the cells making insulin
leading to diabetes.
🐾 Mucus also blocks the lining of the villi, reducing the surface
area for the absorption of food into the
blood, putting the CF patients into severe risks of malnutrition.

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o The reproductive system:

🐾 In women mucus in reproductive system often changes through


menstrual cycle.
🐾 When the woman is fertile its mucus becomes thinner to help
the sperm reach the ovum, but at cystic fibrosis thick mucus can
block the cervix so sperm can’t reach them, it can also block
oviducts making fertilization less likely.
🐾 Men with cystic fibrosis are often infertile and lack the sperm
duct. If they have the sperm duct, then it
is blocked by sticky mucus reducing the number of sperms coming
out of the body.

o The sweat glands:

🐾 Sweat is mainly salty water produced in sweat glands.


🐾 Normally as sweat passes along duct of sweat gland, sodium
chloride is reabsorbed which prevents the loss of too many salts in
sweat.
🐾 So in sweat glands CFTR works in the opposite direction, moving
chloride out of epithelial cells, leading to a more concentrated and
salty sweat than normal.
🐾 The loss of sodium and chloride ions causes problems related to
the balance of ions in the body including nervous problems and
problems in the heart.

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Treating cystic fibrosis:


🐾 There’s no treatment for CF, but the current treatments aim to
reduce the symptoms and allow body
systems to work as effectively as possible.

o Physiotherapy:
🐾 It is important for removing as much as thick sticky mucus from
the lungs as possible.
🐾 It is done a couple of times a day making breathing easier and
reduces risk of serious lung infections.
🐾 New devices include the “ flutter”, positive expiratory pressure
and the Therapy bronchial drainage
system which change the pressure of the airways is better than
vigorous physiotherapy
.
o Diet and enzymes:
🐾 Most people suffering from CF might take enzymes helping in
the replacement of missing pancreatic
enzymes so more of the food can be digested.
🐾 They need to eat more than normal people, and the diet should
contain more high-energy foods
and an adult CF patient needs twice as much proteins as an
unaffected individual.

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o Drug therapies:
most people suffering from CF take a cocktail of medicines to
improve their health and protect them from symptoms including:
🐾 Antibiotics: to destroy bacteria causing lung infection and better
to be inhaled.
🐾 Vaccines: Flu and pneumonia vaccines.
🐾 Mucolytics: drugs to make the mucus runnier and easier to
move.
🐾 Asthma drugs: e.g. Salbutamol and steroids to open airways
and reduce inflammation in the lungs.
🐾 DNase enzymes: make mucus thinner and easier to cough up.
🐾 Insulin: If problems with pancreas leads to diabetes, insulin is
given regularly to control blood glucose concentration.

o Transplant surgery:
🐾 In some cases, the lung or the heart are not functioning
properly, so a transplant is required.
🐾 After transplantation the patients should take
immunosuppressant drugs for the rest of life to prevent
tissue rejection, this will suppress the immunity and makes it
harder for the body to fight infections.

o Infertility treatments:
🐾 This may occur by in vitro fertilization where sperms are taken
from the father and fertilized with ova
from mother outside the body, then some of the resulting embryos
are then returned to the
mothers’ uterus to develop normally

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5. Genetic Screening
:

🐾 There are Three Main Uses of Genetic Screening: Genetic screening


involves analyzing DNA to see if it contains alleles for genetic disorders.
The three main uses are:
1. Identification of Carriers:

1. Carrier testing is offered to individuals with a family history of genetic


disorders.
2. It shows whether people without a disorder carry an allele that can
cause a disorder (e.g. CF).

3. Couples can be tested before having children to determine the


chances of any future children having the disorder, e.g. if both parents
are carriers there’s a 25% chance their child will have the disorder.

4. Carrier testing allows people to make informed decisions about things


like whether to have children and whether to carry out prenatal testing if
the woman is pregnant (see below).

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5. Carrier testing raises social and ethical issues:


🐾 Finding out you’re a carrier may cause emotional stress or affect
your ability to find a partner.
🐾 The tests aren’t always 100% accurate — they could give a false
result. This means decisions could be based on incorrect information.
🐾 Other genetic abnormalities may be found, which could cause
further stress.
🐾 There are concerns that the results of genetic tests could be used by
employers or life insurance companies — resulting in genetic
discrimination.

Preimplantation Genetic Diagnosis (PGD): PGD is carried out on


embryos produced by in vitro fertilization (IVF).
It involves screening embryos for genetic disorders before they’re
implanted into the woman. The advantages of PGD are that it reduces
the chance of having a baby with a genetic disorder — only embryos
without the genetic disorders tested for will be implanted. Also, because
it’s performed before implantation, it avoids the issue of abortion that
could be raised by prenatal testing.

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PGD also raises social and ethical issues:


🐾 It can be used to find out other characteristics (e.g. gender, eye
color) — leading to concerns that in the future, embryos may be selected
for other characteristics (designer babies).
🐾 False results could provide incorrect information.

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Prenatal Testing:

Prenatal tests involve screening unborn babies (fetuses) for genetic


disorders. They’re offered to pregnant women with a family history
of genetic disease.

There are two types of test — amniocentesis and chorionic villus


sampling.

Amniocentesis:

This is usually carried out at 15-20 weeks of pregnancy.


A sample of amniotic fluid (the fluid that surrounds the fetus) is
obtained via the abdomen using a very fine needle. This fluid
contains fetal cells. The cells contain DNA, which can be analyzed.
Amniocentesis has a 1% risk of miscarriage.
Results aren’t available until 2-3 weeks after the sample is taken,
although a rapid test (which only looks for a few of the most
common disorders) can also be performed. The results of the rapid
test are usually available in 3-4 days.

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Chorionic Villus Sampling (CVS):

CVS is usually performed at 11-14 weeks of pregnancy. Because it


can take place earlier in a pregnancy than amniocentesis, an earlier
decision to abort can be made, meaning that the procedure is less
physically traumatic. A sample of cells is taken from the chorionic
villi (part of the fetus that connects it to its mother). The cells
contain fetal DNA, which can be analyzed. This procedure is done
via either the abdomen (using a fine needle) or the vagina (using a
catheter — a thin flexible tube). CVS has a 1-2% risk of miscarriage,
which is greater than with amniocentesis. Initial results (which tell
you whether any obvious major issues have been found) are
available in a few days, but the results of more in-depth and
detailed tests can take two weeks or more.

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Testing Allows People to Make Decisions:


1. Prenatal testing allows parents to make informed decisions. If
the test is positive, the parents may decide to have the child or to
have an abortion. The results can also help parents to prepare for
the future care of the child — any medical treatment available could
be started as soon as the child is born.

2. As with the other forms of testing, prenatal testing raises social


and ethical issues:
🐾 Prenatal tests slightly increase the risk of miscarriage.
🐾 False results could provide incorrect information.
🐾 Some people consider it unethical to abort a fetus because it
has a genetic disorder.

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Chi-square

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🐾 Your Notes

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