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Mitochondrial diseases and ATPase defects of nuclear origin
Josef Houštěk, Tomáš Mráček, Alena Vojtíšková, Jiří Zeman
Jazyk angličtina Země Nizozemsko
Typ dokumentu srovnávací studie, práce podpořená grantem, přehledy
Grantová podpora
NR7790
MZ0
CEP - Centrální evidence projektů
- MeSH
- adenosintrifosfatasy genetika MeSH
- buněčné jádro enzymologie metabolismus MeSH
- fibroblasty metabolismus MeSH
- lidé MeSH
- mitochondriální DNA genetika metabolismus MeSH
- mitochondriální nemoci enzymologie genetika MeSH
- mitochondriální protonové ATPasy biosyntéza genetika nedostatek MeSH
- mitochondrie enzymologie MeSH
- mutace MeSH
- reaktivní formy kyslíku analýza metabolismus MeSH
- vakuolární protonové ATPasy * genetika metabolismus MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- zvířata MeSH
- Publikační typ
- práce podpořená grantem MeSH
- přehledy MeSH
- srovnávací studie 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.
Citace poskytuje Crossref.org
Literatura
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