What is the genetic cause of cystic fibrosis?

Cystic fibrosis (CF) is an inherited chronic disorder that affects the lungs and digestive system of about 30,000 children and adults in the United States. It is caused by a mutation in a gene known as the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is located on the long arm of chromosome 7. This gene encodes a protein that is responsible for transporting chloride and other substances across cell membranes. When a person has two copies of the mutated CFTR gene, the protein is defective and causes thick, sticky mucus to build up in the lungs, pancreas, and other organs. This mucus can cause serious complications, including infection, inflammation, and blockages in the lungs and pancreas. It can also cause damage to the digestive system, leading to malabsorption. In some cases, the mutation can cause other complications, such as liver disease and diabetes.

The majority of CF cases are caused by a mutation in the CFTR gene, which results in the formation of a defective protein. This defective protein affects the transport of chloride and other substances across the cell membrane, resulting in the accumulation of thick, sticky mucus in the organs. This mucus can cause serious health problems and even death if left untreated. In some cases, the mutation can also lead to other complications, such as liver disease, diabetes, or infertility.

The genetic cause of cystic fibrosis is complex and varies from person to person. Each person with CF has a unique combination of mutations in their CFTR gene. Some of these mutations are more common than others, but all of them affect the production of the CFTR protein. Knowing the specific mutation can help to determine the best course of treatment for each individual. A genetic test can determine whether a person has two copies of the mutated gene, and this can be used to diagnose CF.