Current and emerging therapeutic strategies for mitochondrial disorders

Abstract

Mitochondrial diseases are a group of inherited metabolic disorders caused by defects in mitochondrial DNA (mtDNA) or nuclear DNA leading to oxidative phosphorylation dysfunction. Clinical manifestations are highly heterogeneous, typically involving high-energy-demand organs (brain, muscle, heart, etc.), and curative treatments remain largely unavailable. This review examines the literature over the past decades on mitochondrial disease treatments, including traditional Cocktail therapy, target therapy, multidisciplinary management, gene therapy, mtDNA base editing, and mitochondrial replacement therapy. Although most current treatments remain symptomatic, breakthrough advances in gene therapy and base editing over recent years have brought new hope for precision medicine in mitochondrial diseases.