title: Physiology and pathophysiology of mitochondrial DNA.
abstract: Mitochondria are the only organelles in animal cells which possess their own genomes. Mitochondrial DNA (mtDNA) alterations have been associated with various human conditions. Yet, their role in pathogenesis remains largely unclear. This review focuses on several major features of mtDNA: (1) mtDNA haplogroup, (2) mtDNA common deletion, (3) mtDNA mutations in the control region or D-loop, (4) mtDNA copy number alterations, (5) mtDNA mutations in translational machinery, (6) mtDNA mutations in protein coding genes (7) mtDNA heteroplasmy. We will also discuss their implications in various human diseases.
authors.affiliation: Wenzhou Medical College, Wenzhou, Zhejiang, China.
authors.forename: Hongzhi
authors.initials: H
authors.lastname: Li
authors.forename: Danhui
authors.initials: D
authors.lastname: Liu
authors.forename: Jianxin
authors.initials: J
authors.lastname: Lu
authors.forename: Yidong
authors.initials: Y
authors.lastname: Bai
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics / Q000502:physiology*; D006801:Humans; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial