title: [Mitochondrial diseases: molecular mechanisms, clinical presentations and diagnosis investigations].
abstract: Mitochondrial diseases are relatively common inherited metabolic diseases due to mitochondrial respiratory chain dysfunction. Their clinical presentation is extremely diverse, multisystemic or confined to a single tissue, sporadic or transmitted, by maternal or mendelian inheritance. The diagnosis of mitochondrial disorders is difficult. It is based upon several types of clues both clinical (family history, type of symptoms but also their association in syndromic presentation,...) and biological (alteration of the lactate metabolism, brain imaging, morphological alterations especially of muscle tissue). The diagnosis relies upon the demonstration of a defect of the respiratory chain activities and/or upon the identification of the underlying genetic alteration. Molecular diagnosis remains quite difficult and up to-date concerns essentially mitochondrial DNA mutations. On one hand, clinical and biological presentations as well as enzymatic defects lack specificity. On the other hand, candidate genes are very numerous and part of them are probably still unknown.
authors.affiliation: Unité INSERM 582, Institut de Myologie, Laboratoire de Biochimie, Hôpital Pitié Salpêtrière, Paris.
authors.forename: Karine
authors.initials: K
authors.lastname: Auré
authors.forename: Claude
authors.initials: C
authors.lastname: Jardel
authors.forename: Anne
authors.initials: A
authors.lastname: Lombès
mesh_terms: D006801:Humans; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D010085:Oxidative Phosphorylation; D010101:Oxygen Consumption