Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells

Nature. 1990 Sep 27;347(6291):358-63. doi: 10.1038/347358a0.

Abstract

The cystic fibrosis transmembrane conductance regulator (CFTR) was expressed in cultured cystic fibrosis airway epithelial cells and Cl- channel activation assessed in single cells using a fluorescence microscopic assay and the patch-clamp technique. Expression of CFTR, but not of a mutant form of CFTR (delta F508), corrected the Cl- channel defect. Correction of the phenotypic defect demonstrates a causal relationship between mutations in the CFTR gene and defective Cl- transport which is the hallmark of the disease.

Publication types

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

MeSH terms

  • Cell Membrane Permeability
  • Cells, Cultured
  • Chloride Channels
  • Chlorides / metabolism
  • Cyclic AMP / pharmacology
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / metabolism*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Electric Conductivity
  • Epithelium / drug effects
  • Epithelium / metabolism
  • Gene Expression*
  • Humans
  • Kinetics
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism*
  • Membrane Proteins / physiology
  • Microscopy, Fluorescence
  • Mutation
  • Respiratory System / metabolism
  • Transfection
  • Vaccinia virus / genetics

Substances

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