Therapie mitochondrialer Erkrankungen

Although there have been major advances in understanding the pathogenesis of mitochondrial disorders, current treatment is largely supportive and there is still no cure. A variety of pharmacological agents, vitamins and cofactors, dietary modifications and interventions are under investigation, including attempts to bypass blocks in the respiratory chain, antioxidative effects, supplementation of deficiencies of specific compounds or the removal of noxious metabolites. There is currently no clear evidence supporting the use of any of these interventions. However, replacement of deficient metabolites or elimination of toxic molecules might be beneficial in specific disorders. Moreover, current data suggest that idebenone might be useful in Leber??s hereditary optic neuropathy (LHON). Only few randomized controlled trials had been conducted to date, and future controlled trials are strongly needed to establish the role of therapeutic approaches in homogeneous study populations. Gene therapy is a challenge, but promising experimental approaches are being pursued.