Current options in the treatment of mitochondrial diseases

Recent Pat CNS Drug Discov. 2010 Nov;5(3):203-9. doi: 10.2174/157488910793362412.


Mitochondrial diseases (MD) are disorders caused by an impairment of the mitochondrial respiratory chain function. They are usually progressive, isolated or multi-system diseases and have variable times of onset. Because mitochondria have their own DNA (mtDNA), MD can be caused by mutations in both mtDNA and nuclear DNA (nDNA). The complexity of genetic control of mitochondrial function is in part responsible for the intra- and inter-familiar clinical heterogeneity of this class of diseases. Despite the remarkable progress in understanding of the molecular bases of these disorders, therapy of MD is quite inadequate. Present options of treatment mainly include physical, pharmacological and gene therapy approaches. Aerobic exercise and physical therapy is useful to prevent or correct deconditioning and may improve exercise tolerance. Pharmacological approach is based on removing noxious metabolites, using reactive oxygen species scavengers and administrating vitamins and cofactors which is especially important in case of primary deficiencies of specific compounds such as Coenzyme Q10. Gene therapy is fascinating but it is difficult to apply because of polyplasmy and heteroplasmy. Experimental methods include gene shifting, allotopic expression, mitochondrial transfection or correcting mtDNA mutations with specific restriction endonucleases. Here, we discussed some recent patents. Progresses in each of these fields may open interesting perspectives for the future.

Publication types

  • Review

MeSH terms

  • Acidosis, Lactic / drug therapy
  • Animals
  • Antioxidants / pharmacology
  • Antioxidants / therapeutic use
  • Drug Design
  • Exercise Therapy
  • Genetic Therapy
  • Humans
  • Intestinal Pseudo-Obstruction / genetics
  • Intestinal Pseudo-Obstruction / therapy
  • Mitochondrial Diseases / drug therapy*
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / metabolism
  • Mitochondrial Diseases / therapy*
  • Mitochondrial Encephalomyopathies / genetics
  • Mitochondrial Encephalomyopathies / therapy
  • Muscular Dystrophy, Oculopharyngeal
  • Ophthalmoplegia / congenital
  • Thymidine Phosphorylase / genetics
  • Thymidine Phosphorylase / therapeutic use


  • Antioxidants
  • TYMP protein, human
  • Thymidine Phosphorylase

Supplementary concepts

  • Visceral myopathy familial external ophthalmoplegia