Is Cystic Fibrosis Genetic?
Cystic fibrosis (CF) is indeed a genetic disorder caused by mutations in the CFTR gene, which produces a protein that helps regulate salt and water movement across cell membranes. This disruption leads to the production of thick, sticky mucus in various organs, primarily the lungs and digestive system.
CF is inherited in an autosomal recessive pattern, which means that a child must inherit two defective copies of the CFTR gene—one from each parent—to develop the disease. If both parents are carriers of the mutated gene, there is a 25% chance with each pregnancy that their child will have cystic fibrosis.
Over 1,700 mutations within the CFTR gene have been identified, with the most common being the F508del mutation. Genetic testing can determine whether an individual carries mutations associated with CF, allowing for early diagnosis and management of the disease.
Though there is currently no cure for cystic fibrosis, understanding its genetic basis has led to the development of targeted therapies aimed at improving the function of the CFTR protein, offering hope for better health outcomes in affected individuals.