We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
- Authors
Čížková, Alena; Stránecký, Viktor; Mayr, Johannes A; Tesařová, Markéta; Havlíčková, Vendula; Paul, Jan; Ivánek, Robert; Kuss, Andreas W; Hansíková, Hana; Kaplanová, Vilma; Vrbacký, Marek; Hartmannová, Hana; Nosková, Lenka; Honzík, Tomáš; Drahota, Zdeněk; Magner, Martin; Hejzlarová, Kateřina; Sperl, Wolfgang; Zeman, Jiří; Houštěk, Josef
- 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.
- Subjects
GENETIC mutation; ADENOSINE triphosphatase; MITOCHONDRIA; CARDIOMYOPATHIES; NUCLEOTIDE sequence; ORIGIN of life
- Publication
Nature Genetics, 2008, Vol 40, Issue 11, p1288
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.246