What Causes Cystic Fibrosis?

The former senior director of regulatory affairs at Syner-G Pharm Consulting, Robert Gadimian currently leads Perceptive Regulatory Consulting as president. Robert Gadimian also heads Rophe Pharma and maintains several pipeline programs that develop drugs for maladies such as cystic fibrosis.

An inherited disease, cystic fibrosis results in the buildup of a thick mucus that damages the body’s organs. It is a progressive disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene normally regulates salt movement in and out of the cells, but the mutation changes the protein’s function so that it produces a sticky mucus in the digestive, respiratory, and reproductive systems. It also increases the level of salt in the sweat due to ineffective regulation.

Mutation of the CFTR gene is not dominant, so those who have cystic fibrosis inherited the mutated copy from both of their parents. People with one mutated CFTR gene do not have cystic fibrosis, but they are carriers for the disease. While roughly 10 million people in the United States carry cystic fibrosis, there is only a 25 percent chance that a baby from two cystic fibrosis carriers will get both mutated CFTR gene copies. Other mutated genes contribute to differing severities of the condition, as do varying mutations of the CFTR gene itself.