title: Genetics of mitochondrial respiratory chain deficiencies.
abstract: Oxidative phosphorylation, i.e. ATP synthesis by the oxygen-consuming respiratory chain (RC), supplies most organs and tissues with a readily usable energy source, and is already fully functioning before birth. This means that, in theory, RC deficiency can give rise to any symptom in any organ or tissue at any age and with any mode of inheritance, due to the twofold genetic origin of RC components (nuclear DNA and mitochondrial DNA). It has long been erroneously believed that RC disorders originate from mutations of mtDNA as, for some time, only mutations or deletions of mtDNA could be identified. However, the number of disease-causing mutations in nuclear genes is now steadily growing. These genes not only encode the various subunits of each complex, but also the ancillary proteins involved in the different stages of holoenzyme biogenesis, including transcription, translation, chaperoning, addition of prosthetic groups and assembly of proteins, as well as the various enzymes involved in mtDNA metabolism.
authors.affiliation: Inserm U1163, hôpital Necker-Enfants-Malades, institut Imagine, université Paris Descartes-Sorbonne Paris Cité, 149, rue de Sèvres, 75015 Paris, France. Electronic address: agnes.rotig@inserm.fr.
authors.forename: A
authors.initials: A
authors.lastname: Rötig
mesh_terms: D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D004579:Electron Transport / Q000235:genetics; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D011296:Prenatal Diagnosis
chemical_list: D004272:DNA, Mitochondrial
keywords: Chaîne respiratoire; Genetic diseases; Maladies génétiques; Mitochondria; Mitochondrie; Respiratory chain