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Mitochondrial diseases and ATPase defects of nuclear origin
Josef Houštěk, Tomáš Mráček, Alena Vojtíšková, Jiří Zeman
Language English Country Netherlands
Document type Comparative Study, Research Support, Non-U.S. Gov't, Review
Grant support
NR7790
MZ0
CEP Register
- MeSH
- Adenosine Triphosphatases genetics MeSH
- Cell Nucleus enzymology metabolism MeSH
- Fibroblasts metabolism MeSH
- Humans MeSH
- DNA, Mitochondrial genetics metabolism MeSH
- Mitochondrial Diseases enzymology genetics MeSH
- Mitochondrial Proton-Translocating ATPases biosynthesis genetics deficiency MeSH
- Mitochondria enzymology MeSH
- Mutation MeSH
- Reactive Oxygen Species analysis metabolism MeSH
- Vacuolar Proton-Translocating ATPases * genetics metabolism MeSH
- Animals MeSH
- Check Tag
- Humans MeSH
- Animals MeSH
- Publication type
- Research Support, Non-U.S. Gov't MeSH
- Review MeSH
- Comparative Study MeSH
Dysfunctions of the F(1)F(o)-ATPase complex cause severe mitochondrial diseases affecting primarily the paediatric population. While in the maternally inherited ATPase defects due to mtDNA mutations in the ATP6 gene the enzyme is structurally and functionally modified, in ATPase defects of nuclear origin mitochondria contain a decreased amount of otherwise normal enzyme. In this case biosynthesis of ATPase is down-regulated due to a block at the early stage of enzyme assembly-formation of the F(1) catalytic part. The pathogenetic mechanism implicates dysfunction of Atp12 or other F(1)-specific assembly factors. For cellular energetics, however, the negative consequences may be quite similar irrespective of whether the ATPase dysfunction is of mitochondrial or nuclear origin.
References provided by Crossref.org
Literatura
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