What are the Causes of Cystic Fibrosis?

The causes of cystic fibrosis (CF) are a variety of mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. There are more than 1,400 recorded types of mutations of the CFTR gene that can cause cystic fibrosis to develop. It is a congenital disease inherited from both of the child’s parents. If only one parent contributes the mutated CFTR gene, the child will not have the disease but will be a carrier and will risk passing it on to his or her own future children.

The genetic alterations of the CFTR gene cause the proteins that are produced by the gene to degrade quickly and prevent the absorption of selected salts in the body. This causes mucus and other bodily secretions to become thicker, creating an ideal breeding ground for bacteria. Most commonly, infections of the lungs develop because of the body’s inability to adequately expel the super thick mucus. The person who has cystic fibrosis often has to perform coughing exercises several times a day in order to reduce the accumulation of the excess mucus.

Most children who have cystic fibrosis eventually need to have a lung transplant. The lungs are simply unable to continually function with constant infections and secretions building up inside of them. The lungs become scarred and not capable of supplying the body with enough oxygen to keep the blood and organs functioning properly. The waiting lists for lung transplants are long, prompting those in the medical community to devote time and resources into determining the causes of cystic fibrosis.

Researching the causes of cystic fibrosis has become the main goal of many scientists. The life expectancy for those born with this disease is relatively short, and the children have to undergo many medical procedures throughout their lifetimes. Scientists investigate the CFTR gene and analyze the protein chain that the gene produces in hopes that they can develop more advanced treatments to improve the quality of life for those that are living with cystic fibrosis.

Finding the exact causes of cystic fibrosis will enable pharmaceutical companies to develop medications that might be able to interrupt the disease process on a genetic level, and perhaps one day doctors will be able to modify the CFTR gene before birth to ensure that the child experiences a normal life. Identifying the mutated CFTR gene can be performed before birth to determine whether the child will be born with cystic fibrosis. People who have a family history of cystic fibrosis might choose to undergo genetic testing to determine whether they could pass the defective gene onto their children. They might enlist the aid of a genetic specialist when trying to conceive.