Mitochondrial disorders.
OBJECTIVE
We present here a review of the most recent and relevant contributions on the genetic, biochemical and clinical aspects of mitochondrial biogenesis and disease. The field of mitochondrial medicine is evolving fast. After more than 10 years of investigation into mitochondrial DNA defects, a new impulse is now due to progress in three main areas of research.


RESULTS
Some of the basic notions on mitochondrial genetics are being challenged by new data on fundamental biological functions such as mitochondrial DNA replication, transcription and the nuclear control of mitochondrial DNA variations, with important implications in the understanding of the molecular mechanisms of disease. The rapidly increasing identification of nuclear genes responsible for oxidative phosphorylation-related disorders, has greatly broadened the concept of mitochondrial disease.


CONCLUSIONS
The development of animal models and the use of multiple strategies are all accelerating our understanding of the pathogenesis in mitochondrial disorders, by integrating in-vivo, in-vitro and in-silico approaches. Finally, some interesting progress has recently been made on gene therapy, giving hope for the future treatment of these conditions.
D000818:Animals; D000975:Antioxidants / Q000378:metabolism; D003067:Coenzymes; D019610:Cytoprotection; D004272:DNA, Mitochondrial / Q000235:genetics; D015316:Genetic Therapy; D006801:Humans; D008928:Mitochondria / Q000235:genetics / Q000473:pathology; D028361:Mitochondrial Diseases / Q000145:classification / Q000235:genetics* / Q000628:therapy*; D009154:Mutation; D010085:Oxidative Phosphorylation; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency
D000975:Antioxidants; D003067:Coenzymes; D004272:DNA, Mitochondrial; D014451:Ubiquinone; C024989:coenzyme Q10