National Clinical Research Center for Geriatrics Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, China; Xiangya School of Medicine, Central South University, Changsha, China.
Department of Physical Education and Research, Central South University, 932 Lushan South Rd., Changsha, China.
Mitochondrion. 2023 May;70:8-19. doi: 10.1016/j.mito.2023.03.001. Epub 2023 Mar 10.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease. It is caused by the expansion of the CAG trinucleotide repeat sequence in the HTT gene. HD mainly manifests as involuntary dance-like movements and severe mental disorders. As it progresses, patients lose the ability to speak, think, and even swallow. Although the pathogenesis is unclear, studies have found that mitochondrial dysfunctions occupy an important position in the pathogenesis of HD. Based on the latest research advances, this review sorts out and discusses the role of mitochondrial dysfunction on HD in terms of bioenergetics, abnormal autophagy, and abnormal mitochondrial membranes. This review provides researchers with a more complete perspective on the mechanisms underlying the relationship between mitochondrial dysregulation and HD.
亨廷顿病（HD）是一种常染色体显性神经退行性疾病。它是由 HTT 基因中 CAG 三核苷酸重复序列的扩展引起的。HD 主要表现为不自主的舞蹈样运动和严重的精神障碍。随着病情的发展，患者逐渐丧失说话、思考甚至吞咽的能力。尽管发病机制尚不清楚，但研究发现线粒体功能障碍在 HD 的发病机制中占有重要地位。基于最新的研究进展，本文从生物能量学、异常自噬和异常线粒体膜等方面对线粒体功能障碍在 HD 中的作用进行了梳理和讨论。本文为研究人员提供了一个更完整的视角，了解线粒体失调与 HD 之间的关系的机制。
