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

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.

ACTN3基因多态性与运动技能的发展

人类ACTN3基因的多态性导致约10亿人缺乏ACTN3蛋白。ACTN3缺失并不导致肌肉疾病,提示ACTN3对于肌肉的功能并不是关键性的。ACTN2也许代偿了ACTN3的功能。但作为快肌纤维Z线的结构成分,ACTN3的存在可能有利于人类速度力量型运动技能的发展,ACTN3 RR基因型运动员的肌肉内II型快肌纤维多于XX基因型,对运动训练的反应性也强些。因此认为ACTN3是一个与肌肉爆发力有关的基因,它也许可以用于选拔优秀的速度或力量型运动员。但ACTN3缺乏是否给耐力型运动员带来好处还有待进一步研究。