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 b...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.展开更多
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)。
文摘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.
