Therapies in inborn errors of oxidative metabolism.
Mitochondrial diseases encompass a wide range of presentations and mechanisms, dictating a need to consider both broad-based and disease-specific therapies. The manifestations of mitochondrial dysfunction and the response to therapy vary between individuals. This probably reflects the genetic complexity of mitochondrial biology, which requires an excess of 2000 genes for proper function, with numerous interfering epigenetic and environmental factors. Accordingly, we are increasingly aware of the complexity of these diseases which involve far more than merely decreased ATP supply. Indeed, recent therapeutic progress has addressed only specific disease entities. In this review present and prospective therapeutic approaches will be discussed on the basis of targets and mechanism of action, but with a broad outlook on their potential applications.
Institut National de la Santé et de la Recherche Médicale Unité 676, Hôpital Robert Debré, F-75019 Paris, France.
Manuel
M
Schiff
Paule
P
Bénit
Howard T
HT
Jacobs
Jerry
J
Vockley
Pierre
P
Rustin
D000818:Animals; D002986:Clinical Trials as Topic; D004272:DNA, Mitochondrial / Q000235:genetics; D015316:Genetic Therapy; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism* / Q000628:therapy; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism; D028361:Mitochondrial Diseases / Q000235:genetics / Q000378:metabolism / Q000628:therapy*
D004272:DNA, Mitochondrial