Disruption in the biosynthesis or function the cystic fibrosis transmembrane conductance regulator (CFTR) results from over 700 different mutations in the CFTR gene. It is useful to classify these mutations by the nature of the resulting defect. Understanding the molecular mechanism that leads to CFTR dysfunction stimulates the design of therapeutic strategies based on restoration of CFTR function to the mutant protein, or 'protein repair therapy.' This review links the classification of CFTR mutations to a number of new pharmacologic strategies that lead to enhancement of CFTR function by manipulation of mutant CFTR.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health