Carriers of a single CFTR mutation are asymptomatic: an evolving dogma?

Cystic fibrosis (CF) is a genetic autosomal recessive disease due to mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein [1, 2]. Mutations in the CFTR gene may cause a reduction of CFTR protein function, leading to abnormal chloride and bicarbonate transport in epithelia, resulting in abnormal mucus properties and a multiorgan disease dominated by respiratory and gastro-intestinal abnormalities [3]. The level of CFTR protein function is an important determinant of disease in humans and CF patients carrying two disease-causing CFTR mutations usually have very low levels of functional CFTR protein. Carriers of a single CFTR mutation (also called CF carriers) express 50% CFTR protein function, a level that has been considered sufficient to stay healthy [3].

Source: European Respiratory Journal - September 9, 2020 Category: Respiratory Medicine Authors: Martin, C., Burgel, P.-R. Tags: Editorials Source Type: research