Question: How does Cystic Fibrosis form?

Matthew Moore answered on 13 Mar 2015:

Hi Aimee, great question!

Cystic fibrosis is a genetic disorder which is inherited in what’s called a recessive manner. That means that two copies of the mutated (faulty) gene are required. As a result, this means that people can also be carriers of the disease and not have cystic fibrosis as they have a functioning version.

The gene responsible for cystic fibrosis is called CFTR, the protein it produces is involved in ion transport in epithelial cells; these are the cells which line the intestines and the lungs for example.

This, as a result causes lung disease, with symptoms including difficulty breathing, heavy mucus and an inability to remove it by coughing and susceptibility to bacterial infections which can be deadly.