质膜微囊蛋白3的功能与相关疾病研究进展  

Advances in research of caveolin-3 regarding its functions and related diseases

作　　者：裴杰[1,2] 郭宪[2] 张林[1] 欧阳燕[1] 吉尚戎[1] 

机构地区：[1]兰州大学生命科学学院,兰州730000 [2]中国农业科学院兰州畜牧与兽药研究所,兰州730050

出　　处：《兰州大学学报（自然科学版）》2015年第5期716-722,共7页Journal of Lanzhou University(Natural Sciences)

基　　金：国家自然科学基金项目(31402034);中央级公益性科研院所基本科研业务费专项资金项目(1610322015011)

摘　　要：质膜微囊蛋白3(CAV3)主要存在于各类肌肉组织(骨骼肌、心肌、平滑肌和膈肌)的质膜微囊内,促使肌细胞质膜微囊的形成.就CAV3的结构、主要功能、表达特性、相关肌肉疾病和发病机制进行综述.CAV3蛋白由151个氨基酸组成,被分为4个区域:N端区、脚手架区、跨膜区和C端区;CAV3在肌肉质膜微囊上参与行使各项生物功能,包括细胞信号传导、离子通道运输和能量代谢;CAV3可调控成肌细胞的生存力和分化,其正常生理水平的表达是肌肉发育和生理功能正常行使的关键因素;发生在CAV3上的突变可导致神经肌肉疾病和心肌疾病,主要包括LGMD、RMD、DM、H-CK和GHC,其发病机理涉及多方面遗传和环境因素.Caveolin-3 exists in the caveolae of various muscle types（skeletal muscle,cardiac muscle,smooth muscle and diaphragm muscle）,and prompts the formation of the caveolae on myocytes.This article summarizes the structure,major functions,expression features,caveolin-3-related muscular diseases and pathogenesis.Caveolin-3 is made up of 151 amino acids,which are distributed in 4 regions：N-terminal,scaffold,transmembrane domain and C-terminal.Caveolin-3 participates in various biological function in muscular caveolae,including cell signaling,transportation of ion channels and energy metabolism;Caveolin-3 regulates the survivability and differentiation of myoblasts and its normal physiological expression plays a key role in muscle development and physiological functions.Mutations of Caveolin-3 cause neuromuscular diseases and cardiomyopathies,including limb girdle muscular mystrophy,rippling muscle disease,distal myopathy,hyperCKemia,and genetic hypertrophic cardiomyopathy,whose pathogeneses involve various genetic and environmental factors.

关 键 词：质膜微囊 质膜微囊蛋白-3 肌肉 疾病 

分 类 号：Q615[生物学—生物物理学]