What is the cause of cystic fibrosis?

Cystic fibrosis is caused by a genetic mutation, specifically a mutation in the CFTR gene located on chromosome 7. This gene encodes a protein that is responsible for regulating the movement of salt and water in and out of cells. When there is a mutation, it leads to the production of a dysfunctional CFTR protein, which results in the production of thick and sticky mucus in various organs, notably the lungs and digestive system.

Understanding this genetic basis is crucial, as it highlights that cystic fibrosis is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for a child to be affected by the disorder. While chromosomal abnormalities and environmental factors can impact health significantly, they do not directly cause cystic fibrosis. Infectious agents are unrelated to the fundamental cause of the disorder, although individuals with cystic fibrosis may face increased susceptibility to infections due to compromised lung function. This genetic perspective is essential in understanding the condition, its inheritance, and potential treatment strategies.