Mitochondrial diseases are highly heterogeneous genetic disorders caused by defects in oxidative phosphorylation (OxPhos).
At present, no cure exists for these conditions beyond supportive interventions aimed at alleviating complications. Mitochondria are under dual genetic control exerted by both mitochondrial DNA (mtDNA) and nuclear DNA. It is therefore not surprising that mutations in either genome can lead to mitochondrial disease.
Although mitochondria are typically associated with respiration and ATP synthesis, they play fundamental roles in a wide range of other biochemical, signaling, and execution pathways — each representing a potential target for therapeutic intervention. These approaches can be classified as general therapies, potentially applicable to multiple mitochondrial conditions, or as personalized therapies tailored to a specific disease, such as gene therapy, cell therapy, and organ replacement.
Mitochondrial medicine is a particularly dynamic field of research, and recent years have witnessed a steady increase in the number of clinical applications. This chapter will present the most recent therapeutic advances emerging from preclinical studies, along with an update on ongoing clinical applications. We believe that we are entering a new era in which the etiological treatment of these disorders is becoming a realistic option.
