Current Insights into the Potential of Gene Therapy to Treat Rare Mitochondrial Diseases

Mitochondrial disorders represent a rare category of diseases that arise from abnormalities in essential proteins necessary for the proper functioning and maintenance of mitochondria. These mutations disrupt the proteins and activities associated with mitochondria, resulting in impairments across various systems and organs in the body, leading to debilitating diseases. They are multisystemic in nature and contain mutations in both the nuclear and mitochondrial genomes. Hence, it is highly challenging to detect mitochondrial illnesses, which makes treating them very challenging. In recent times, the growing emphasis on research and clinical trials in the field of mitochondrial diseases has significantly advanced the current understanding of treatment options for these conditions. As a precision medicine approach, gene therapy has become a potential treatment for mitochondrial illnesses. As therapy is still in its early stages, further research is needed to determine its effectiveness and safety. This chapter explores the biology of the mitochondria, mutations, and prospective uses of gene therapy in the future to treat rare mitochondrial diseases.