This site is intended for healthcare professionals
Journals
  • Home
  • /
  • Journals
  • /
  • Cystic fibrosis
  • /
  • Targeted therapies to improve CFTR function in cys...
Journal

Targeted therapies to improve CFTR function in cystic fibrosis.

Read time: 1 mins
Published:23rd Sep 2015
Author: Brodlie M, Haq IJ, Roberts K, Elborn JS.
Source: Genome Medicine
Availability: Free full text
Ref.:Genome Med. 2015 Sep 24;7:101.
DOI:10.1186/s13073-015-0223-6.

Cystic fibrosis is the most common genetically determined, life-limiting disorder in populations of European ancestry. The genetic basis of cystic fibrosis is well established to be mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that codes for an apical membrane chloride channel principally expressed by epithelial cells. Conventional approaches to cystic fibrosis care involve a heavy daily burden of supportive treatments to combat lung infection, help clear airway secretions and maintain nutritional status. In 2012, a new era of precision medicine in cystic fibrosis therapeutics began with the licensing of a small molecule, ivacaftor, which successfully targets the underlying defect and improves CFTR function in a subgroup of patients in a genotype-specific manner. Here, we review the three main targeted approaches that have been adopted to improve CFTR function: potentiators, which recover the function of CFTR at the apical surface of epithelial cells that is disrupted in class III and IV genetic mutations; correctors, which improve intracellular processing of CFTR, increasing surface expression, in class II mutations; and production correctors or read-through agents, which promote transcription of CFTR in class I mutations. The further development of such approaches offers great promise for future therapeutic strategies in cystic fibrosis.

Read abstract on library site

Access full article