TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

  • Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246.
Alena Cízková  1 ,  Viktor Stránecký ,  Johannes A Mayr ,  Markéta Tesarová ,  Vendula Havlícková ,  Jan Paul ,  Robert Ivánek ,  Andreas W Kuss ,  Hana Hansíková ,  Vilma Kaplanová ,  Marek Vrbacký ,  Hana Hartmannová ,  Lenka Nosková ,  Tomás Honzík ,  Zdenek Drahota ,  Martin Magner ,  Katerina Hejzlarová ,  Wolfgang Sperl ,  Jirí Zeman ,  Josef Houstek ,  Stanislav Kmoch
Affiliations
  • 1. Institute of Inherited Metabolic Disorders, Charles University of Prague, First Faculty of Medicine, Prague 12808, Czech Republic.
PMID: 18953340 DOI: 10.1038/ng.246
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.