The expression of the mitochondrial gene MT-ND4 is downregulated in cystic fibrosis

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Updated: Jul 16, 2026

Expression and Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein in Saccharomyces cerevisiae
14:56

Expression and Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein in Saccharomyces cerevisiae

Published on: March 10, 2012

Angel G Valdivieso1, Florencia Marcucci, Guillermo Taminelli

  • 1Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Argentina.

Biochemical and Biophysical Research Communications
|March 27, 2007
PubMed

Insights

Cystic fibrosis (CF) disrupts mitochondrial gene expression. CFTR chloride transport activity normally up-regulates MT-ND4, a key mitochondrial gene, but this is reduced in CF.

Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Cystic fibrosis (CF) is caused by mutations in the CFTR gene.
  • CFTR's chloride transport activity influences the expression of various genes.
  • Previous research identified SRC and MUC1 as CFTR-dependent genes.

Purpose of the Study:

  • To investigate if MT-ND4, a mitochondrial gene, is also regulated by CFTR.
  • To determine the impact of CFTR dysfunction on MT-ND4 expression in CF.

Main Methods:

  • Comparison of MT-ND4 expression in CFDE cells with and without wild-type CFTR.
  • Reverse transcription-polymerase chain reaction (RT-PCR) to confirm differential expression.
  • In situ hybridization on human lung tissue from CF and non-CF individuals.
  • Assessment of MT-ND4 expression following treatment with CFTR inhibitors.

Main Results:

  • Reduced MT-ND4 expression was observed in CFDE cells compared to those expressing wild-type CFTR.
  • Differential expression of MT-ND4 in CF was confirmed via RT-PCR and in situ hybridization.
  • CFTR chloride transport inhibitors decreased MT-ND4 expression in CFDE cells expressing wild-type CFTR.

Conclusions:

  • MT-ND4 is a CFTR-dependent gene.
  • CFTR chloride transport activity indirectly up-regulates MT-ND4 expression.
  • CFTR dysfunction leads to downregulation of the mitochondrial gene MT-ND4.

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