Causes of Cystic Fibrosis

Cystic fibrosis is a genetic disease that is caused when a baby is born with mutated CFTR genes. Cystic fibrosis affects glands in the body that produce fluids like sweat, mucus, and digestive juices. In individuals with cystic fibrosis, the fluids become thick and sticky and severely affect organs like the lungs, pancreas, and digestive tract. Modern medicine has improved the lifespan of patients with cystic fibrosis. Many patients now live till their 50s and also attend school and office. Take a look at the article to learn about its causes.

What Causes it?

The causes of cystic fibrosis are genetic and inherited. The CFTR gene mutation is considered one of the main causes of cystic fibrosis. The CFTR protein controls the movement of ions from the inside of cells to the outside. Every individual inherits two CFTR genes, one from each parent. If a person inherits a mutated CFTR gene and a normal CFTR gene from either parent, they become a cystic fibrosis carrier. Cystic fibrosis carriers can pass on the mutated CFTR gene to their children. While carriers are generally healthy, they may exhibit mild symptoms of cystic fibrosis. However, if a child inherits a CFTR gene with a mutation from each parent, he/she will have cystic fibrosis.

There are more than 2,000 mutations of the CFTR gene that can cause cystic fibrosis. Different mutations affect how much CFTR protein cells produce and how well the protein functions. The most common gene mutation involves a missing part of the CFTR gene, which leads to a CFTR protein that cannot maintain its proper shape. Some CFTR mutations cause cells to produce very little CFTR protein. Many families do not have any previous history of CF, yet when a child gets affected, they wonder how that happened. In such cases, there must be silent carriers of the mutated CFTR gene in the family.

For those who suffer from cystic fibrosis, the CFTR protein does not work correctly, negatively impacting how sodium and water move in and out of cells. As a result, mucus becomes thick and sticky due to reduced water content. Additionally, sweat glands in the skin produce extra-salty sweat.