Literature DB >> 18953340

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.

Alena Cízková1, 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.   

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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Year:  2008        PMID： 18953340     DOI： 10.1038/ng.246

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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