Emerging concepts in the therapy of mitochondrial disease

Highlights

• At present there is no effective cure for mitochondrial diseases.

• Generalist and tailored therapies are emerging at the pre-clinical level.

• Some therapies are effective in disease models and ready for translation to patients.

• Other approaches warrant more work at the pre-clinical level.

Abstract

Mitochondrial disorders are an important group of genetic conditions characterized by impaired oxidative phosphorylation. Mitochondrial disorders come with an impressive variability of symptoms, organ involvement, and clinical course, which considerably impact the quality of life and quite often shorten the lifespan expectancy. Although the last 20 years have witnessed an exponential increase in understanding the genetic and biochemical mechanisms leading to disease, this has not resulted in the development of effective therapeutic approaches, amenable of improving clinical course and outcome of these conditions to any significant extent. Therapeutic options for mitochondrial diseases still remain focused on supportive interventions aimed at relieving complications. However, new therapeutic strategies have recently been emerging, some of which have shown potential efficacy at the pre-clinical level. This review will present the state of the art on experimental therapy for mitochondrial disorders.