CYSTIC FIBROSIS

Cystic fibrosis is a life-threatening genetic disorder primarily impacting the lungs and
digestive system.

It is caused by a mutation in the CFTR (Cystic Fibrosis Transmembrane Conductance

Regulator) gene.

The cystic fibrosis transmembrane conductance regulator (CFTR) protein helps to maintain
the balance of salt and water on many surfaces in the body, such as the surface of the lung.
The CFTR protein is a particular type of protein called an ion channel.

The disorder is autosomal recessive, meaning an individual must inherit two copies of the
faulty CFTR gene – one from each parent – to develop the condition.

Symptoms:

Inherited disorder cystic fibrosis affect cell membrane.

The effect of cystic fibrosis is that body makes a lot of mucus in the airways that may cause
hard to breath. It can also affect pancreas.

Symptoms include a persistent cough, frequent lung infections, inability to gain weight, and
salty-tasting skin.

These are caused by a malfunction of the transmembrane proteins responsible for the
transport of chloride ions.

CFTR Gene and Protein:

The CFTR gene provides instructions for the CFTR protein, which acts as a channel for the
transport of chloride ions across cell membranes.

A mutation in the CFTR gene disrupts this ion transport, leading to thick, sticky mucus in
various organs.

Genetic Mutation:

The most common mutation leading to cystic fibrosis is the delta F508 deletion (ΔF508),
which removes a vital amino acid from the CFTR protein.

This disrupts protein folding, leading to its degradation and a lack of functioning CFTR
channels on the cell surface.

Diagnosis and Management:

Sweat tests and genetic screening are commonly used to diagnose cystic fibrosis.

Management techniques include physiotherapy to clear the lungs, medication to thin mucus,
and dietary supplements to combat malnutrition.
Lung transplants may become necessary in severe cases.

Genetic Implications:

Carriers of the cystic fibrosis gene mutation are generally healthy but can pass the faulty gene
onto their offspring.

Couples with a family history of cystic fibrosis may seek genetic counselling to understand
the potential risks to any future children.