MILES EDU

COURSE CODE:BIO1201:

Specification: Name:
2.16: understand how the expression of a gene mutation in
Class/Period:
people with cystic fibrosis impairs the functioning of the
gaseous exchange, digestive and reproductive systems Date:

Key Questions: Notes:

What causes cystic fibrosis? Cystic fibrosis is a genetic disorder that is caused due to mutation in the gene
called the CFTR. This gene is found on chromosome no. 7. It is one of the most
longest gene and there are more than 1000 different types of mutation that can
lead to cystic fibrosis.

The CFTR protein is made up of 1,480 amino acids. Once the CFTR protein chain is
made, it is folded into a specific 3-D structure.

This disease is a genetic disorder that is passed from one generation to another.
It is a recessive disorder, therefore a person should have two recessive alleles to
have this disease.

Where are CFTR proteins The Cystic Fibrosis Transmembrane Regulatory protein, CFTR protein is found in
found? many cells. It functions as a channel protein that allows chloride ions to move out
of the cell.

This protein can be found in the cells that line the wall of the respiratory system,
digestive system, pancreatic duct, fallopian tube and the sperm duct.

How is the CFTR protein made? Transcription:

1. The gene coding for CFTR protein unwinds, and free RNA mononucleotides
pair up with exposed bases through complementary base pairing.
2. This is catalysed by RNA polymerase and allows the formations of the
phosphodiester bonds between the RNA mononucleotides.
3. Once the mRNA molecule is formed, it detached from the DNA strand and
moves out to the cytoplasm where it binds to a ribosome.

References:
 MILES EDU
COURSE CODE:BIO1201:

Translation:
4. tRNA carrying specific amino acids binds to the triplet base on mRNA. The
anticodon of the tRNA must be complementary to the codon on mRNA.
5. This is repeated on the next codon and each amino acid carried by tRNA
will bind to the adjacent amino acid in the ribosome through condensation.
6. The enzyme peptidyl transferase catalyses the formation of peptide bond
between amino acids.
7. This continues until a stop codon is reached when it signals the end of
translation and the detachment of the polypeptide chain.

8. The polypeptide chain then is folded due to the formation of bonds such as
the disulfide bridges and the hydrophilic interactions between the
R-groups to for a 3D structure.
9. This eventually becomes the CFTR protein.

What is the function of a

normal CFTR protein?

1. In a cell lining the wall of the respiratory system, the proteins present are:
a) Sodium-chloride pump - to actively pump in chloride ion and pump
out sodium ions.
b) CFTR protein passively pumps out chloride ions.
c) Sodium ion channel pumps in sodium ions passively but is only active
when the CFTR protein is inactive.
2. As CFTR protein pumps out chloride ions, the concentration inside the cell
decreases and the water potential increases.
3. This allows water to move out of the cell via osmosis.
4. Therefore the mucus outside the cell stays runny and the cilia can easily
sweep the mucus out of the lungs.

References:
 MILES EDU
COURSE CODE:BIO1201:

What is the function of a

abnormal CFTR protein?

1. As an abnormal CFTR protein cannot pump out chloride ions, the

concentration inside the cell increases and the water potential decreases.
2. This causes water to move in to the cell via osmosis.
3. Therefore the mucus outside the cell becomes thick and sticky and the
cilia cannot sweep it out of the lungs.

(i) The respiratory system

What is the effect of cystic
fibrosis on the respiratory
system?

References:
 MILES EDU
COURSE CODE:BIO1201:

The respiratory system :-

(i) produces mucus – it helps prevent lung infections by trapping
microorganisms.

(ii) Has cilia (small hair-like structures) – transports mucus and

microorganisms towards the throat.

(iii)Contains antibodies and white blood cells which functions effectively in

watery mucus to destroy pathogens trapped in the mucus.

In people suffering from CF the mucus is abnormally thick and sticky. This causes
many problems.
- The cilia is unable to move the mucus towards the throat because it’s so
thick and sticky.
- This causes the mucus to build up in the airways.
- Some airways become completely blocked by the mucus that gas exchange
can’t take place in the are below the blockage.
- The surface area available for gas exchange is reduced, causing breathing
difficulties.
- Sufferers are also more prone to lung infections as microorganisms that
are trapped by the mucus cannot be removed. So thick pathogen laden
mucus builds up becoming and ideal environment for the growth of these
pathogens.
- Mucus containing antibodies and white blood cells cannot functions
effectively in thick mucus so they lose their natural antibacterial
properties.

References:
 MILES EDU
COURSE CODE:BIO1201:

The digestive system:

What is the effect of cystic
fibrosis on the digestive
system?

Pancreas:-
- produces digestive enzymes.
- E.g. lipase and protease.

Pancreatic duct:-
- a tube that connects the pancreases to the small intestine.
- Transports the digestive enzymes produced by the pancreas to the small
intestine.

Walls of the small intestine:-

- Has microvillus that increases surface area to maximise absorption.
- Has a thin layer of cells to increase absorption.
- Contains cells that produce a thin layer of watery mucus to protect the
delicate lining against digestive enzymes and to act as a lubricant.

The mucus produced by CF sufferer is abnormally thick and sticky.

- The tube that connects the pancreas to the small intestine can be blocked
with mucus. This prevents the digestive system produced by the pancreas
from reaching the small intestine. This reduces the sufferer’s ability to
digest food and so fewer nutrients can be absorbed.

References:
 MILES EDU
COURSE CODE:BIO1201:

- It also causes the digestive enzymes trapped in the pancreas to start

digesting and damaging the cells of the pancreas so production of insulin is
affected and the sufferer may become diabetics.
- The mucus can cause (cysts) to form in the pancreas. This inhibits the
production of enzymes, which reduces the ability to digest food.
- The mucus lining the small intestine is abnormally thick – this inhibits the
absorption of nutrients.

What is the effect of cystic The reproductive system:

fibrosis on the reproductive
system?

- Mucus in the reproductive system helps to prevent infection and transport

sex cells (sperm or egg).
- In normal males:
Ø Tubes connecting the testicles (where sperm are produced) to
the urethra are called vas deferens.
Ø During ejaculation, the sperm are propelled from each epididymis
through a muscular duct, the vas deferens.
Ø The cells lining the walls of vas deferens produces mucus to help
in the flow of sperm when it is ejaculated.
- In normal females:

References:
 MILES EDU
COURSE CODE:BIO1201:

Ø The mucus in the reproductive system normally changes during

the menstrual cycle.
Ø When the women is fertile it, mucus in the system becomes
thinner to help sperm get through the cervix and along the
oviduct (fallopian tube).
- The mucus produced by CF sufferer is abnormally thick and sticky.
Ø Males: vas deferens is absent in some or if present it becomes
blocked by the thick mucus. So, either no sperm can reach the
penis (sterile) or only a reduced number of sperm reaches the
penis (infertile).
Ø Females: produces fertile eggs but the thick mucus blocks the
cervix so sperm cannot reach them. It can also block the
oviducts making fertilisation even less likely.

Summary

References: