线粒体融合相关蛋白与神经系统遗传性疾病  

Proteins of Mitochondrial Fusion and Hereditary Diseases of the Nervous System

作　　者：洪亢亢[1] 曾爱源[1] 李清华[1] 

机构地区：[1]桂林医学院附属医院神经内科,广西桂林541001

出　　处：《医学综述》2013年第9期1561-1564,共4页Medical Recapitulate

基　　金：广西自然科学基金(2011GXNSFA018232)

摘　　要：线粒体是一切生命体的能量来源,是细胞生存和死亡的重要细胞器。正常细胞的线粒体是动态的细胞器,不断地进行分裂与融合,维持自身稳定的更新,若这种动态平衡被打破则造成线粒体形态和功能的异常。研究表明,线粒体的融合与胰岛素抵抗、高血压、细胞凋亡、胚胎发育等密切相关,近来还发现其与腓骨肌萎缩症2A型、视神经萎缩等神经系统疾遗传性病相关,而线粒体融合相关蛋白是线粒体融合的关键调控因子。该文就线粒体融合相关蛋白与神经系统遗传性疾病的关系进行综述。Mitochondria is the source of energy for every organism,an organelle crucial for cellular living and death. Mitochondria are dynamic and undergo fusion and fission reactions for maintaining steady updating in normal cells; when the balance is broken, it will lead to the dysfunction of mitochondfial morphology and function. Emerging evidence showed that mitochondrial fusion was related to insulin counteraction, hyperten- sion, apoptosis ,enibryogeny ,and to Charcot-Marie-Tooth type 2A （CMT2A） and autosomal dominant optic atro- phy. The proteins of mitochondfial fusion are key regulators of mitochondrial fusion. Here is to make a review on the relation between proteins of mitochondrial fusion and the hereditary nervous system diseases.

关 键 词：线粒体 融合 腓骨肌萎缩症2A型 视神经萎缩 

分 类 号：R741[医药卫生—神经病学与精神病学]