title: [Pathophysiology of human mitochondrial diseases].
abstract: Mitochondrial diseases, defined as the diseases due to oxidative phosphorylation defects, are the most frequent inborn errors of metabolism. Their clinical presentation is highly diverse. Their diagnosis is difficult. It relies on metabolic parameters, histological anomalies and enzymatic assays showing defective activity, all of which are both inconstant and relatively unspecific. Most mitochondrial diseases have a genetic origin. Candidate genes are very numerous, located either in the mitochondrial genome or the nuclear DNA. Pathophysiological mechanisms of mitochondrial diseases are still the matter of much debate. Those underlying the tissue-specificity of diseases due to the alterations of a ubiquitously expressed gene are discussed including (i) quantitative aspect of the expression of the causal gene or its partners when appropriate, (ii) quantitative aspects of the bioenergetic function in each tissue, and (iii) tissue distribution of heteroplasmic mitochondrial DNA alterations.
authors.affiliation: Inserm U1016,CNRS UMR 8104, Institut Cochin, 24 rue du Faubourg Saint Jacques, 75014 Paris, France - Université Paris-Descartes-Paris 5, 75014 Paris, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Lombès
authors.affiliation: Inserm U1016,CNRS UMR 8104, Institut Cochin, 24 rue du Faubourg Saint Jacques, 75014 Paris, France - AP-HP, Hôpital Ambroise Paré, Service d'Explorations Fonctionnelles, 92100 Boulogne-Billancourt, France - Université Versailles-Saint-Quentin en Yvelines, 78180 Montigny-Le-Bretonneux, France.
authors.forename: Karine
authors.initials: K
authors.lastname: Auré
authors.affiliation: Inserm U1016,CNRS UMR 8104, Institut Cochin, 24 rue du Faubourg Saint Jacques, 75014 Paris, France - AP-HP, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, CHU Pitié-Salpêtrière, 75651 Paris, France.
authors.forename: Claude
authors.initials: C
authors.lastname: Jardel
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics; D005786:Gene Expression Regulation; D056726:Genetic Association Studies; D006801:Humans; D015994:Incidence; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology*; D009154:Mutation; D009928:Organ Specificity; D010085:Oxidative Phosphorylation
chemical_list: D004272:DNA, Mitochondrial