title: Mitochondrial diseases and genetic defects of ATP synthase.
abstract: ATP synthase is a key enzyme of mitochondrial energy conversion. In mammals, it produces most of cellular ATP. Alteration of ATP synthase biogenesis may cause two types of isolated defects: qualitative when the enzyme is structurally modified and does not function properly, and quantitative when it is present in insufficient amounts. In both cases the cellular energy provision is impaired, and diminished use of mitochondrial DeltamuH+ promotes ROS production by the mitochondrial respiratory chain. The primary genetic defects have so far been localized in mtDNA ATP6 gene and nuclear ATP12 gene, however, involvement of other nuclear genes is highly probable.
authors.affiliation: Institute of Physiology and Centre for Applied Genomics, Academy of Sciences of the Czech Republic, Vídenská 1083, CZ 142 20 Prague, Czech Republic. houstek@biomed.cas.cz
authors.forename: Josef
authors.initials: J
authors.lastname: Houstek
authors.forename: Andrea
authors.initials: A
authors.lastname: Pícková
authors.forename: Alena
authors.initials: A
authors.lastname: Vojtísková
authors.forename: Tomás
authors.initials: T
authors.lastname: Mrácek
authors.forename: Petr
authors.initials: P
authors.lastname: Pecina
authors.forename: Pavel
authors.initials: P
authors.lastname: Jesina
mesh_terms: D000818:Animals; D006801:Humans; D028361:Mitochondrial Diseases / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D025261:Mitochondrial Proton-Translocating ATPases / Q000096:biosynthesis / Q000235:genetics* / Q000378:metabolism*; D017382:Reactive Oxygen Species / Q000378:metabolism
chemical_list: D017382:Reactive Oxygen Species; D025261:Mitochondrial Proton-Translocating ATPases