Display Settings:


Send to:

Choose Destination
See comment in PubMed Commons below
Biochim Biophys Acta. 2004 Jul 23;1658(1-2):115-21.

Mitochondrial diseases and ATPase defects of nuclear origin.

Author information

  • 1Institute of Physiology and Centre for Integrated Genomics, Academy of Sciences of the Czech Republic, Vídenská 1083, CZ 142 20 Prague 4-Krc, Czech Republic. houstek@biomed.cas.cz


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.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk