Zhang Lufei, Zhang Zhaoyong, Khan Aisha, Zheng Hui, Yuan Chao, Jiang Haishan
Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China.
Ann Transl Med. 2020 Jan;8(1):17. doi: 10.21037/atm.2019.10.113.
Mitochondrial diseases are a group of clinically and genetically heterogeneous disorders driven by oxidative phosphorylation dysfunction of the mitochondrial respiratory chain which due to pathogenic mutations of mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). Recent progress in molecular genetics and biochemical methodologies has provided a better understanding of the etiology and pathogenesis of mitochondrial diseases, and this has expanded the clinical spectrum of this conditions. But the treatment of mitochondrial diseases is largely symptomatic and thus does not significantly change the course of the disease. Few clinical trials have led to the design of drugs aiming at enhancing mitochondrial function or reversing the consequences of mitochondrial dysfunction which are now used in the clinical treatment of mitochondrial diseases. Several other drugs are currently being evaluated for clinical management of patients with mitochondrial diseases. In this review, the current status of treatments for mitochondrial diseases is described systematically, and newer potential treatment strategies for mitochondrial diseases are also discussed.
线粒体疾病是一组临床和遗传异质性疾病，由线粒体呼吸链的氧化磷酸化功能障碍驱动，这是由于线粒体DNA（mtDNA）或核DNA（nDNA）的致病突变所致。分子遗传学和生化方法的最新进展使人们对线粒体疾病的病因和发病机制有了更好的理解，这也扩大了这种疾病的临床谱。但线粒体疾病的治疗大多只是对症治疗，因此并不能显著改变疾病进程。很少有临床试验能设计出旨在增强线粒体功能或逆转线粒体功能障碍后果的药物，而这些药物目前已用于线粒体疾病的临床治疗。目前正在评估其他几种药物用于线粒体疾病患者的临床管理。在这篇综述中，系统地描述了线粒体疾病治疗的现状，同时也讨论了线粒体疾病更新的潜在治疗策略。
