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

TitleTMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
Publication TypeJournal Article
Year of Publication2008
AuthorsCízková, A, Stránecký, V, Mayr, JA, Tesarova, M, Havlícková, V, Paul, J, Ivánek, R, Kuss, AW, Hansikova, H, Kaplanová, V, Vrbacký, M, Hartmannová, H, Nosková, L, Honzík, T, Drahota, Z, Magner, M, Hejzlarová, K, Sperl, W, Zeman, J, Houštěk, J, Kmoch, S
JournalNat Genet
Volume40
Issue11
Pagination1288-90
Date Published2008 Nov
ISSN1546-1718
KeywordsCardiomyopathies, Cell Line, Cloning, Molecular, DNA, Complementary, Genetic Complementation Test, Humans, Infant, Newborn, Membrane Proteins, Mitochondrial Encephalomyopathies, Mitochondrial Proteins, Mitochondrial Proton-Translocating ATPases, Mutation, Transfection
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.

DOI10.1038/ng.246
Alternate JournalNat. Genet.
Citation Key10.1038/ng.246
PubMed ID18953340