2. Academic Validation
  3. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

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

Affiliation

  • 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.

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