Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators.

ABSTRACT: Clinical studies with modulators of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) protein have demonstrated that functional restoration of the mutated CFTR can lead to substantial clinical benefit. However, studies have shown highly variable patient responses. The objective of this study was to determine a biomarker predictive of the clinical response. CFTR function was assessed in vivo via nasal potential difference (NPD) and in human nasal epithelial (HNE) cultures by the response to Forskolin/IBMX and the CFTR potentiator VX-770 in short-circuit-current (∆I_scF/I+V) experiments. CFTR expression was evaluated by apical membrane fluorescence semi-quantification. I_sc measurements discriminated CFTR function between controls, healthy heterozygotes, pati

SUBMITTER: Pranke IM 

PROVIDER: S-EPMC5547155 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature