线粒体融合蛋白2在2A型腓骨肌萎缩症中的作用研究进展  

Research Advances in Role of Mitofusin 2 in Charcot-Marie-Tooth Disease Type 2A

作　　者：周如梦 丁曼[1] 卢祖能[1] ZHOU Rumeng;DING Man;LU Zuneng(Department of Neurology,Renmin Hospital of Wuhan University,Wuhan 430060,China)

机构地区：[1]武汉大学人民医院神经内科,武汉430060

出　　处：《医学综述》2022年第16期3127-3131,3139,共6页Medical Recapitulate

基　　金：国家自然科学基金(81801134)。

摘　　要：线粒体融合蛋白2(MFN2)是位于线粒体外膜的大型跨膜蛋白,参与线粒体网络结构的调节。MFN2是一种重要的多功能蛋白,在线粒体融合、线粒体-内质网连接、线粒体轴突运输、线粒体自噬等生物过程中发挥重要作用。其功能异常与神经系统疾病的发生密切相关,特别是MFN2基因突变导致2A型腓骨肌萎缩症(CMT2A)的发生。CMT2A是最常见的遗传性感觉运动性周围神经病,其发病机制尚不清楚,且暂无有效的治疗方案。因此,充分了解MFN2的生理功能,对于研究CMT2A的发病机制和潜在治疗靶点具有重要意义。Mitofusin 2(MFN2)is a large transmembrane protein located on the mitochondrial outer membrane and contributes to mitochondrial network regulation.MFN2 is an important multifunctional protein in a variety of biological processes,such as mitochondrial fusion,mitochondria-endoplasmic reticulum contacts,mitochondrial axonal transport and mitophagy.The dysfunction of MFN2 is closely related to the occurrence and development of neurodegeneration.In particular,Charcot-Marie-Tooth disease type 2A(CMT2A)is caused by MFN2 gene mutationse.CMT2A is the most common inherited neuropathy affecting motor and sensory neurons,the pathogenesis of which is not well elucidated yet,and there is no effective treatment for now.Therefore,to fully understand the physiological functions of MFN2 is of great significance for studying the pathogenesis and potential therapeutic targets of CMT2A.

关 键 词：2A型腓骨肌萎缩症 线粒体融合蛋白2 线粒体融合 线粒体-内质网连接 线粒体轴突运输 

分 类 号：R746.4[医药卫生—神经病学与精神病学]