Article
Mitochondrial diseases and ATPase defects of nuclear origin.
Biochimica et biophysica acta - 23 Jul 2004
Houstek Josef, Mrácek Tomás, Vojtísková Alena, Zeman Jirí
Abstract excerpt
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...
Topics
- Adenosine Triphosphatases
- Animals
- Cell Nucleus
- DNA, Mitochondrial
- Fibroblasts
- Humans
- Mitochondria
- Mitochondrial Diseases
- Mitochondrial Proton-Translocating ATPases
- Mutation
- Reactive Oxygen Species