Tezacaftor/ivacaftor in people with cystic fibrosis heterozygous for minimal function CFTR mutations

Cystic fibrosis (CF) is a life-shortening, multisystem disease that affects ≈85,000 people worldwide [1]. CF is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene that reduce the quantity and/or the function of the CFTR protein (a chloride channel) on epithelial cell surfaces. The F508del-CFTR mutation is the most common CFTR mutation [2]. This mutation impairs the processing of the CFTR protein and its trafficking to the epithelial cell surface and also reduces the function of the mutated CFTR protein that reaches the cell surface [3].

Source: Journal of Cystic Fibrosis - June 12, 2020 Category: Respiratory Medicine Authors: Anne Munck, Eitan Kerem, Helmut Ellemunter, Daniel Campbell, Linda T. Wang, Neil Ahluwalia, Caroline A. Owen, Claire Wainwright Source Type: research