title: Mitochondrial genome mutations and kidney disease.
abstract: Mutations in the mitochondrial genome have been shown to be responsible for several neuromuscular diseases in humans. In this article, we discuss the molecular genetics of mitochondria, their centrality in cellular energy production, and reasons why their genome is extremely vulnerable to mutation. Mitochondrial DNA (mtDNA) mutations and their classic encephalomyopathic clinical phenotypes are briefly reviewed, and evidence presented that mtDNA mutations also present primarily as kidney diseases. Research trends in the field are discussed. Suggestions are made regarding future work, the clinical implications thereof, and potential therapeutic utility accruing from these advances.
authors.affiliation: Department of Internal Medicine, University of South Dakota School of Medicine, Sioux Falls, SD 57105, USA.
authors.forename: P J
authors.initials: PJ
authors.lastname: Singh
authors.forename: R N
authors.initials: RN
authors.lastname: Santella
authors.forename: E T
authors.initials: ET
authors.lastname: Zawada
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics*; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics; D009154:Mutation; D017354:Point Mutation
chemical_list: D004272:DNA, Mitochondrial