title: [Mitochondrial DNA mutations and related human diseases].
abstract: In the past two decades, it has been found that mitochondrial DNA (mtDNA) mutations are associated with a wide range of human diseases, from those affecting single organ to those with multi-system involvement. The purpose of this review is to explore the relationship between mtDNA mutations and human diseases. Four aspects are highlighted: characteristics of mitochondrial genetics, mtDNA mutations in human inherited diseases, role of somatic mtDNA mutations in aging and tumor, as well as diagnosis and treatment of mtDNA diseases.
authors.affiliation: Key Lab of Gene Resource Utilization for Severe Hereditary Diseases of Ministry of Education, Hefei 230032, China.
authors.forename: Gang
authors.initials: G
authors.lastname: Chen
authors.forename: Wei-Dong
authors.initials: WD
authors.lastname: Du
authors.forename: Hui-Min
authors.initials: HM
authors.lastname: Cao
mesh_terms: D004272:DNA, Mitochondrial / Q000032:analysis*; D015785:Eye Diseases, Hereditary / Q000235:genetics; D020271:Heredodegenerative Disorders, Nervous System / Q000235:genetics*; D006801:Humans; D007888:Leigh Disease / Q000235:genetics; D028361:Mitochondrial Diseases / Q000235:genetics*; D009154:Mutation; D009896:Optic Atrophy / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial