线粒体功能障碍与亨廷顿病  

Mitochondrial Dysfunction and Huntington’s Disease

作　　者：赵江宇 郭兴 ZHAO Jiangyu;GUO Xing(School of Basic Medicine,Nanjing Medical University,Nanjing 211166,China)

机构地区：[1]南京医科大学基础医学院,江苏南京211166

出　　处：《中山大学学报（医学科学版）》2024年第6期941-952,共12页Journal of Sun Yat-Sen University:Medical Sciences

基　　金：国家自然科学基金(82371260)。

摘　　要：亨廷顿病(HD)是常染色体显性遗传的神经退行性疾病,由亨廷顿蛋白(HTT)基因CAG重复序列异常扩增引起。其主要临床表现为运动障碍、认知下降和精神症状。随着基础研究不断深入,线粒体功能障碍,包括能量代谢异常,氧化应激,线粒体动力学异常,钙稳态失调等方面与HD之间的关系愈发引起研究者的重视。在本篇综述中,我们讨论了线粒体功能障碍的多种形式与HD之间存在的联系,旨在强调线粒体功能障碍在HD疾病发生发展过程中的重要作用。Huntingtons disease(HD)is an autosomal dominant neurodegenerative disease caused by abnormal amplification of the CAG repeat of the huntingtin(HTT)gene.Its main clinical manifestations are movement disorders,cognitive decline,and psychiatric symptoms.The occurrence and development of HD is related to a variety of factors,and with the deepening of basic research,the relationship between mitochondrial dysfunction,including decreased energy production,abnormal mitochondrial dynamics,and calcium homeostasis.Huntingtons disease has attracted more and more attention from researchers.In this review,we discuss the links that exist between the many forms of mitochondrial dysfunction and HD,with the aim of highlighting the important role of mitochondrial dysfunction in the development and progression of HD disease.

关 键 词：线粒体功能障碍 亨廷顿病 线粒体动力学 线粒体能量代谢 线粒体钙稳态 

分 类 号：R742.2[医药卫生—神经病学与精神病学]