TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246. Epub 2008 Oct 26.

Abstract

We carried out whole-genome homozygosity mapping, gene expression analysis and DNA sequencing in individuals with isolated mitochondrial ATP synthase deficiency and identified disease-causing mutations in TMEM70. Complementation of the cell lines of these individuals with wild-type TMEM70 restored biogenesis and metabolic function of the enzyme complex. Our results show that TMEM70 is involved in mitochondrial ATP synthase biogenesis in higher eukaryotes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cardiomyopathies / complications
  • Cardiomyopathies / enzymology*
  • Cardiomyopathies / genetics*
  • Cell Line
  • Cloning, Molecular
  • DNA, Complementary / genetics
  • Genetic Complementation Test
  • Humans
  • Infant, Newborn
  • Membrane Proteins / genetics*
  • Mitochondrial Encephalomyopathies / complications
  • Mitochondrial Encephalomyopathies / enzymology*
  • Mitochondrial Encephalomyopathies / genetics*
  • Mitochondrial Proteins / genetics*
  • Mitochondrial Proton-Translocating ATPases / deficiency*
  • Mutation / genetics*
  • Transfection

Substances

  • DNA, Complementary
  • Membrane Proteins
  • Mitochondrial Proteins
  • TMEM70 protein, human
  • Mitochondrial Proton-Translocating ATPases