title: Genetic and biochemical intricacy shapes mitochondrial cytopathies.
abstract: The major progress made in the identification of the molecular bases of mitochondrial disease has revealed the huge diversity of their origin. Today up to 300 mutations were identified in the mitochondrial genome and about 200 nuclear genes are possibly mutated. In this review, we highlight a number of features specific to mitochondria which possibly participate in the complexity of these diseases. These features include both the complexity of mitochondrial genetics and the multiplicity of the roles ensured by the organelles in numerous aspects of cell life and death. This spectacular complexity presumably accounts for the present lack of an efficient therapy in the vast majority of cases.
authors: Wellcome Trust Centre for Mitochondrial Research, Institute for Neuroscience, Newcastle University, Framlington Road, Newcastle upon Tyne NE2 4HH, UK.
authors: Douglass M
authors: DM
authors: Turnbull
authors: INSERM UMR 1141, Hôpital Robert Debré, Paris, France; Université Paris 7, Faculté de Médecine Denis Diderot, Paris, France. Electronic address: pierre.rustin@inserm.fr.
authors: Pierre
authors: P
authors: Rustin
mesh_terms: D000818:Animals; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics* / Q000378:metabolism* / Q000628:therapy; D017240:Mitochondrial Myopathies / Q000235:genetics* / Q000378:metabolism* / Q000628:therapy
keywords: Metabolism; Mitochondria; Mitochondrial disease; OXPHOS; Respiratory chain; Therapy; mtDNA