TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

• DOI: 10.1038/ng.246
• Publication Date: 2008-10-26T18:22:03Z
• Authors: Alena Čížková; Viktor Stránecký; Johannes A Mayr; Markéta Tesařová; Vendula Havlíčková; Jan Paul; Robert Ivánek; Andreas W Kuss; Hana Hansíková; Vilma Kaplanová; Marek Vrbacký; Hana Hartmannová; Lenka Nosková; Tomáš Honzík; Zdeněk Drahota; Martin Magner; Kateřina Hejzlarová; Wolfgang Sperl; Jiří Zeman; Josef Houštěk; Stanislav Kmoch
• Keywords: Mitochondrial disease

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.