ACTN3 R577X多态性影响骨骼肌功能的分子机制探究  

Molecular Mechanism of ACTN3 R577X Polymorphism Influences Skeletal Muscle Function

作　　者：荆文[1] 陈琦[1] 李传芬[1] JING Wen;CHEN Qi;LI Chuanfen(Shandong Normal University,Jinan 250014,China)

机构地区：[1]山东师范大学,山东济南250014

出　　处：《中国体育科技》2023年第10期70-76,共7页China Sport Science and Technology

基　　金：山东师范大学本科教学改革研究项目(2021BJ023)。

摘　　要：ACTN3基因常见的无义多态性(rs1815739,R577X)导致全球超过15亿人快肌纤维缺失α-辅肌动蛋白-3(α-actinin-3),使其发生功能改变。不同运动项目的优秀运动员ACTN3基因型分布频率与普通人群不同,ACTN3 R577X多态性与运动表现密切相关。为探究ACTN3 R577X多态性影响运动能力的分子机制,对α-辅肌动蛋白结构、ACTN3 R577X多态性及其与运动能力间的相关性进行了综述。研究发现,α-actinin-3缺失通过肌纤维蛋白组成、骨骼肌代谢特性、Ca^(2+)释放回收速率和信号传导通路等方面的分子机制影响骨骼肌功能以及ACTN3 R577X多态性诱导骨骼肌产生不同适应性进而影响运动表现。A common null polymorphism of ACTN3(rs1815739,R577X)causes fast muscle fibers deficiency ofα-actinin-3 protein in more than 1.5 billion people worldwide,resulting in functional changes of fast muscle fibers.The ACTN3 genotype distribution frequency in elite athletes in different sports is different from that in the general population,and ACTN3 R577X polymorphism is closely related to sports performance.In order to explore the molecular mechanism of ACTN3 R577X polymorphism affecting exercise ability,this study reviewed the structure ofα-actinin,the polymorphism of ACTN3 R577X and its correlation with exercise ability.It was found thatα-actinin-3 deficiency influence skeletal muscle function and ACTN3 R577X polymorphism induces different adaptations in skeletal muscle to further affect exercise performance through molecular mechanisms such as muscle fibrin composition,skeletal muscle metabolic characteristics,Ca^(2+)release and recovery rate and signal transduction pathway.

关 键 词：ACTN3基因 α-辅肌动蛋白-3 基因多态性 骨骼肌功能 遗传选材 

分 类 号：G804.2[文化科学—运动人体科学]