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

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

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
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TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Alena Cízková et al. Nat Genet. 2008 Nov.

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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