CFTR expression and organ damage in cystic fibrosis

Ann Intern Med. 1995 Aug 15;123(4):305-8. doi: 10.7326/0003-4819-123-4-199508150-00009.

Abstract

The cloning of the defective gene in cystic fibrosis (CFTR) is the most important step to date toward understanding the pathogenesis of the disease and developing novel therapeutic strategies. Although many studies have provided insights into the molecular defects and knowledge of the expression and role of the gene, the basic defect and its pathogenesis are still unclear. We hypothesize that organ damage in cystic fibrosis is the result of a combination of at least three main factors: the genotype (the type of mutation that alters the function of the cystic fibrosis transmembrane regulator [CFTR]), the rate of CFTR-mediated chloride secretion in the epithelium of each organ (inferred from the level of expression of the gene), and the anatomical and physiologic characteristics of the affected organs (the size and contents of the ducts). Confirmation of this hypothesis should allow a better understanding of the pathogenesis of the disease and help prevent organ damage.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chloride Channels / metabolism
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / physiopathology
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Gene Expression Regulation
  • Genotype
  • Humans
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Mutation

Substances

  • CFTR protein, human
  • Chloride Channels
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator