Mitochondrial Genetics and Disease: From Molecular Dysfunction to Therapeutic Strategies

Mitochondrial genetic disorders represent a clinically heterogeneous group of conditions arising from mutations in the mitochondrial or nuclear genome, and this chapter offers a detailed review of the molecular mechanisms underlying mitochondrial dysfunction, including impaired oxidative phosphorylation, mitophagy dysregulation, and mitochondrial dynamics. The clinical spectrum of primary mitochondrial diseases, diagnostic approaches including mitochondrial genome sequencing and functional assays, and emerging therapeutic strategies — including mitochondrial replacement therapy and small molecule interventions — are comprehensively reviewed.