Which CFTR mutation is the most prevalent among patients with Cystic Fibrosis?
Cystic fibrosis is a disorder that damages your lungs, digestive tract and other organs. It’s an inherited disease caused by a defective gene that can be passed from generation to generation. Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices.
The ΔF508 mutation is a deletion of three nucleotides that results in the loss of the phenylalanine at the 508th position in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein. This mutation leads to the production of a CFTR protein that is misfolded. As a result, the protein is not properly transported to the cell surface, where it is needed to help control the movement of salt and water in and out of cells. This leads to the thick and sticky mucus characteristic of cystic fibrosis. The ΔF508 mutation is the most common cause of cystic fibrosis worldwide, accounting for about 70% of CFTR mutations in patients globally. Other mutations listed, such as G551D, R117H, and N1303K, are also found in the CFTR gene of cystic fibrosis patients but are much less common compared to ΔF508.
Problem:
Which CFTR mutation is the most prevalent among patients with Cystic Fibrosis?
A) G551D
B) R117H
C) ΔF508
D) N1303K
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