TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
Language English Country United States Media print-electronic
Document type Journal Article, Research Support, Non-U.S. Gov't
PubMed
18953340
DOI
10.1038/ng.246
PII: ng.246
Knihovny.cz E-resources
- MeSH
- Cell Line MeSH
- Cardiomyopathies complications enzymology genetics MeSH
- Cloning, Molecular MeSH
- DNA, Complementary genetics MeSH
- Humans MeSH
- Membrane Proteins genetics MeSH
- Mitochondrial Encephalomyopathies complications enzymology genetics MeSH
- Mitochondrial Proteins genetics MeSH
- Mitochondrial Proton-Translocating ATPases deficiency MeSH
- Mutation genetics MeSH
- Infant, Newborn MeSH
- Genetic Complementation Test MeSH
- Transfection MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- DNA, Complementary MeSH
- Membrane Proteins MeSH
- Mitochondrial Proteins MeSH
- Mitochondrial Proton-Translocating ATPases MeSH
- TMEM70 protein, human MeSH Browser
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.
References provided by Crossref.org
Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase
Czech Footprints in the Bioenergetics Research
Evolution and diversification of the nuclear envelope
TMEM70 deficiency: long-term outcome of 48 patients
