title: [Mitochondrial DNA diseases and therapeutic strategies].
abstract: Defects in mitochondrial genome can cause a wide range of clinical disorders, mainly neuromuscular diseases. Various strategies have been proposed to address these pathologies; unfortunately no efficient treatment is currently available. In some cases, defects may be rescued by targeting into mitochondria nuclear DNA-expressed counterparts of the affected molecules. Another strategy is based on the induced shift of the heteroplasmy, meaning that wild type and mutated mtDNA can coexist in a single cell. The occurrence and severity of the disease depend on the heteroplasmy level, therefore, several approaches have been recently proposed to selectively reduce the levels of mutant mtDNA. Here we describe the experimental systems used to study the molecular mechanisms of mitochondrial dysfunctions: the respiratory deficient yeast strains, mammalian trans-mitochondrial cybrid cells and mice models, and overview the recent advances in development of various therapeutic approaches.
authors.affiliation: UMR 7156, Université de Strasbourg-CNRS, 21, rue René Descartes, 67084 Strasbourg, France.
authors.forename: Yann
authors.initials: Y
authors.lastname: Tonin
authors.affiliation: UMR 7156, Université de Strasbourg-CNRS, 21, rue René Descartes, 67084 Strasbourg, France.
authors.forename: Nina
authors.initials: N
authors.lastname: Entelis
mesh_terms: D000818:Animals; D004272:DNA, Mitochondrial / Q000235:genetics; D015870:Gene Expression; D006801:Humans; D051379:Mice; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000628:therapy*; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation; D012343:RNA, Transfer / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; D012343:RNA, Transfer