Additional disruption of the ClC-2 Cl(-) channel does not exacerbate the cystic fibrosis phenotype of cystic fibrosis transmembrane conductance regulator mouse models

J Biol Chem. 2004 May 21;279(21):22276-83. doi: 10.1074/jbc.M309899200. Epub 2004 Mar 7.

Abstract

Cystic fibrosis is a fatal inherited disease that is caused by mutations in the gene encoding a cAMP-activated chloride channel, the cystic fibrosis transmembrane conductance regulator (CFTR). It has been suggested that the cystic fibrosis phenotype might be modulated by the presence of other Cl(-) channels that are coexpressed with CFTR in some epithelial cells. Because the broadly expressed plasma membrane Cl(-) channel, ClC-2, is present in the tissues whose function is compromised in cystic fibrosis, we generated mice with a disruption of both Cl(-) channel genes. No morphological changes in their intestine, lung, or pancreas, tissues affected by cystic fibrosis, were observed in these mice. The mortality was not increased over that observed with a complete lack of functional CFTR. Surprisingly, mice expressing mutant CFTR (deletion of phenylalanine 508), survived longer when ClC-2 was disrupted additionally. Currents across colonic epithelia were investigated in Ussing chamber experiments. The disruption of ClC-2, in addition to CFTR, did not decrease Cl(-) secretion. Colon expressing wild-type CFTR even secreted more Cl(-) when ClC-2 was disrupted, although CFTR transcript levels were unchanged. It is concluded that ClC-2 is unlikely to be a candidate rescue channel in cystic fibrosis. Our data are consistent with a model in which ClC-2 is located in the basolateral membrane.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • CLC-2 Chloride Channels
  • Cell Membrane / metabolism
  • Chloride Channels / metabolism*
  • Colon / pathology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Disease Models, Animal
  • Epithelium / metabolism
  • Heterozygote
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Models, Biological
  • Mutation
  • Pancreas / pathology
  • Phenotype
  • Reverse Transcriptase Polymerase Chain Reaction
  • Time Factors

Substances

  • CLC-2 Chloride Channels
  • Chloride Channels
  • Cystic Fibrosis Transmembrane Conductance Regulator