Effect of ACTN3 gene polymorphism on the pathogenic phenotype of related diseases and its treatment prospect  

作　　者：Yi-Kang Yu Bo-Cheng Liang Xi-Xia Yu 

机构地区：[1]Zhejiang Chinese Medical University,548 binwen Road,Binjiang District,Hangzhou„310053,China [2]The Second affiliated Hospital of Zhejiang Chinese Medical University,No.318 Chaowang Road,Gong-shu District,Hangzhou,310003,China

出　　处：《TMR Aging》2021年第2期1-8,共8页衰老研究

基　　金：General Research Project of Zhejiang Education Department(NO.Y202044448);National Natural Science Foundation of China Youth Sci-ence Foundation Project(No.81803902);Research Fund of Zhejiang Chinese Medical University(No.2018ZD05)。

摘　　要：Theα-actin-3 protein expressed by ACTN3 gene cod is a troponin binding protein,which is mainly located in the Z disk on skeletal muscle fibers.Due to the homozygous nonsense polymorphism(R577X)of the gene,about 1.5 billion people in the world have lost the expression of this protein.Because the presence ofα-actin-3 protein increases skeletal muscle cells to be compliant,the gene is often referred to as the“speed gene”,and current studies suggest that this gene polymorphism has varying degrees of influence on muscle injury,decreased endurance,hypomyopathy,osteoporosis,endocrine disease,cardiovascular disease.This is a review of the current effects of ACTN3 gene polymorphisms on a variety of diseases,as well as its possible intervention treatment options.

关 键 词：Index Terms—ACTN3 gene actin3protein Gene polymorphism Troponin binding protein αSkeletal muscle disease Review 

分 类 号：G80[文化科学—运动人体科学]