Treatment of mitochondrial disease

Abstract

Defects of the mitochondrial genome are widely recognized as important causes of disease in man. Patients may present at any age with clinical symptoms that vary from acute episodes of lactic acidosis in infancy to severe neurodegenerative illness in adulthood. While modern molecular genetic techniques have facilitated major advances in the diagnosis and characterization of specific molecular defects, treatment for the majority of patients remains supportive in the absence of definitive biochemical therapies. As a consequence, the possibilities for mitochondrial DNA gene therapy must be considered. In this review, we will evaluate the current biochemical strategies available to clinicians for the management of patients with mitochondrial disease and examine the possible approaches to the gene therapy of mitochondrial DNA defects.