title: [Genetic diseases of the mitochondrial DNA in humans].
abstract: Mitochondrial diseases are a group of disorders produced by defects in the oxidative phosphorylation system (Oxphos system), the final pathway of the mitochondrial energetic metabolism, resulting in a deficiency of the biosynthesis of ATP. Part of the polypeptide subunits involved in the Oxphos system are codified by the mitochondrial DNA. In the last years, mutations in this genetic system have been described and associated to well defined clinical syndromes. The clinical features of these disorders are very heterogeneous affecting, in most cases, to different organs and tissues and their correct diagnosis require precise clinical, morphological, biochemical and genetic data. The peculiar genetic characteristics of the mitochondrial DNA (maternal inheritance, polyplasmia and mitotic segregation) give to these disorders very distinctive properties. The English version of this paper is available at: http://www.insp.mx/salud/index.html.
authors.affiliation: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, España.
authors.forename: A
authors.initials: A
authors.lastname: Solano
authors.forename: A
authors.initials: A
authors.lastname: Playán
authors.forename: M J
authors.initials: MJ
authors.lastname: López-Pérez
authors.forename: J
authors.initials: J
authors.lastname: Montoya
mesh_terms: D000255:Adenosine Triphosphate / Q000096:biosynthesis; D000328:Adult; D000367:Age Factors; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000235:genetics; D017240:Mitochondrial Myopathies / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis / Q000235:genetics; D015995:Prevalence; D012106:Research; D013030:Spain
chemical_list: D004272:DNA, Mitochondrial; D000255:Adenosine Triphosphate