[Hereditary disorders of mitochondrial ATP synthase].

Abstract

Primary disorders of mitochondrial ATP synthase belong to the most severe mitochondrial diseases. They can be caused by heteroplasmic mtDNA mutations in ATP6 gene that affect ability of enzyme to synthesise ATP, or by mutations in nuclear genes encoding factors essential for biosynthesis and assembly of the catalytic F1-part of the enzyme. In the latter case the cellular content of the enzyme decreases to < or = 30%. In both types of defects low production of ATP appears to be associated with increased mitochondrial ROS production related to elevated levels of mitochondrial membrane potential.

• Authors: J Houstĕk, J Zeman
• Journal: Casopis lekaru ceskych (Cas Lek Cesk) Vol. 143 Issue 8 Pg. 517-20 ( 2004) ISSN: 0008-7335 [Print] Czech Republic
• Vernacular Title: Dĕdicné poruchy mitochondriální ATP syntázy.
• PMID: 15446454 (Publication Type: Journal Article, Review)

Chemical References

• MT-ATP6 protein, human
• Adenosine Triphosphatases
• Mitochondrial Proton-Translocating ATPases

Topics

• Adenosine Triphosphatases (genetics)
• Humans
• Mitochondrial Diseases (diagnosis, enzymology, genetics)
• Mitochondrial Proton-Translocating ATPases (genetics, metabolism)
• Mutation