Mitochondrial DNA depletion syndromes (MDS) encompass a wide spectrum of rare genetic disorders caused by severe reduction in mitochondrial DNA (mtDNA), and exhibit heterogenous phenotypes classified as myopathic, encephalomyopathic, hepatocerebral, and neurogastrointestinal. Prognosis for such a spectrum of diseases is poor and is majorly dependent on symptomatic treatment and nutritional supplementation. Understanding the mechanistic aspect of mtDNA depletion can help bring forth a new era of medicine, moving beyond symptomatic treatment and focusing more on organelle-targeted therapies. In this review, we highlight some of the proposed mechanistic bases of mtDNA depletion and the latest therapeutic measures used to treat MDS.

线粒体 DNA 缺失综合征 (MDS) 涵盖由线粒体 DNA (mtDNA) 严重减少引起的一系列罕见遗传性疾病，并表现出异质表型，分为肌病、脑肌病、肝脑和神经胃肠病。此类疾病的预后较差，主要依赖于对症治疗和营养补充。了解 mtDNA 耗竭的机制有助于开创医学新时代，超越对症治疗，更多地关注细胞器靶向治疗。在这篇综述中，我们重点介绍了一些拟议的 mtDNA 耗竭机制基础以及用于治疗 MDS 的最新治疗措施。