Functional rescue of c.3846G > A (W1282X) in patient-derived nasal cultures achieved by inhibition of nonsense mediated decay and protein modulators with complementary mechanisms of action

Cystic Fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR is an ATP- and PKA-dependent chloride channel, regulating chloride and bicarbonate ion flux across apical membranes of polarized epithelial cells [1 –3]. To date, over 2000 mutations have been reported in the CFTR gene (CFTR1 database, http://www.genet.sickkids.on.ca). Around 10% of these mutations result in the formation of premature termination codons (PTCs) and prevent synthesis of full length CFTR mRNA and protein.

Source: Journal of Cystic Fibrosis - December 8, 2019 Category: Respiratory Medicine Authors: Onofrio Laselva, Paul DW Eckford, Claire Bartlett, Hong Ouyang, Tarini NA Gunawardena, Tanja Gonska, Theo J Moraes, Christine E Bear Source Type: research