Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation

EMBO Rep. 2004 Nov;5(11):1071-7. doi: 10.1038/sj.embor.7400273.

Abstract

A significant fraction of disease-causing mutations affects pre-mRNA splicing. These mutations can generate both aberrant and correct transcripts, the level of which varies among different patients. An inverse correlation was found between this level and disease severity, suggesting a role for splicing regulation as a genetic modifier. Overexpression of splicing factors increased the level of correctly spliced RNA, transcribed from minigenes carrying disease-causing splicing mutations. However, whether this increase could restore the protein function was unknown. Here, we demonstrate that overexpression of Htra2-beta1 and SC35 increases the level of normal cystic fibrosis transmembrane conductance regulator (CFTR) transcripts in cystic-fibrosis-derived epithelial cells carrying the 3849+10 kb C --> T splicing mutation. This led to activation of the CFTR channel and restoration of its function. Restoration was also obtained by sodium butyrate, a histone deacetylase inhibitor, known to upregulate the expression of splicing factors. These results highlight the therapeutic potential of splicing modulation for genetic diseases caused by splicing mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing*
  • Cell Line
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / physiology*
  • Exons
  • High-Temperature Requirement A Serine Peptidase 2
  • Histone Deacetylase Inhibitors
  • Humans
  • Mitochondrial Proteins
  • Mutation
  • RNA / chemistry
  • RNA, Messenger / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Serine Endopeptidases / genetics
  • Sodium Oxybate / chemistry
  • Time Factors
  • Transfection
  • Up-Regulation

Substances

  • CFTR protein, human
  • Histone Deacetylase Inhibitors
  • Mitochondrial Proteins
  • RNA, Messenger
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • RNA
  • Sodium Oxybate
  • Serine Endopeptidases
  • HTRA2 protein, human
  • High-Temperature Requirement A Serine Peptidase 2