Therapeutic strategies for mitochondrial disorders

Objectives: There is currently no curative therapy for mitochondrial disorders, although symptomatic measures can be highly effective and greatly improve the quality of life and outcome of these patients. This review highlights potential strategies for the therapeutic management of mitochondrial disorders.

Methods: Data for this review were identified by searches of MEDLINE, Current Contents, using various relevant search terms.

Results: Strategies to establish a therapeutic regimen aim to enhance respiratory chain function, eliminate noxious compounds, shift the heteroplasmy rate, alter mitochondrial dynamics, transfer cytoplasm, and promote gene therapy. Symptomatic measures rely on drugs (e.g., antiepileptics), avoidance of mitochondrion-toxic agents, substitution of blood cells, hemodialysis, invasive measures (such as a pacemaker), surgery (e.g., ptosis correction), physiotherapy, speech therapy, occupational therapy, dietary measures (e.g., ketogenic diet, anaplerotic diet), and the avoidance of mitochondrion-toxic agents (e.g., ozone). With the increasing awareness of mitochondrial disorders, the number of treatment studies is growing and its quality is improving. If high quality studies (high Jadad score) yield statistical significance for end points, a treatment is more reliable than with lower quality studies.

Conclusions: Despite the lack of a proven treatment for mitochondrial disorders, a nihilistic attitude toward treatment is not justified. A number of studies are seeking targeted therapies, and highly effective symptomatic measures are available.