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
Background An accelerated muscle wasting was the pivotal factor for protein-energy wasting in end stage renal disease. However, very few researches have examined the skeletal muscle quantity and quality in clinical pa...Background An accelerated muscle wasting was the pivotal factor for protein-energy wasting in end stage renal disease. However, very few researches have examined the skeletal muscle quantity and quality in clinical patients. This study investigated the muscle morphologic changes by magnetic resonance imaging （MRI） and analyzed the related factors in hemodialysis patients. Methods Fifty-eight patients receiving maintenance hemodialysis （HD） were investigated and 28 healthy adults with gender and age matched were used as controls （Control）. Anthropometry, cytokine factors, and laboratory data were measured. The muscle and intermuscular adipose tissues （IMAT） were analyzed via a Thigh MRI. The bicep samples were observed after HE staining. Homeostatic model assessment of insulin resistance （HOMA-IR） was measured and their association with muscle wasting was analyzed. Results HD patients tended to have a lower protein diet, anthropometry data, and serum albumin, but the C reactive protein and interleukin-6 increased significantly. The MRI showed that HD patients had less muscle mass and a lower muscle/total ratio, but the fat/muscle and IMAT was higher when compared to the Control group. The muscle fiber showed atrophy and fat accumulation in the biceps samples come from the HD patients. Moreover, we found that the HD patients presented with a high level of plasma fasting insulin and increased HOMA-IR which negatively correlated with the muscle/ total ratio, but positively with the fat/muscle ratio. Conclusions Muscle wasting presented early before an obvious malnutrition condition emerged in HD patients. The main morphological change was muscle atrophy along with intermuscular lipid accumulation. Insulin resistance was associated with muscle wasting in dialysis patients.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.
文摘Background An accelerated muscle wasting was the pivotal factor for protein-energy wasting in end stage renal disease. However, very few researches have examined the skeletal muscle quantity and quality in clinical patients. This study investigated the muscle morphologic changes by magnetic resonance imaging （MRI） and analyzed the related factors in hemodialysis patients. Methods Fifty-eight patients receiving maintenance hemodialysis （HD） were investigated and 28 healthy adults with gender and age matched were used as controls （Control）. Anthropometry, cytokine factors, and laboratory data were measured. The muscle and intermuscular adipose tissues （IMAT） were analyzed via a Thigh MRI. The bicep samples were observed after HE staining. Homeostatic model assessment of insulin resistance （HOMA-IR） was measured and their association with muscle wasting was analyzed. Results HD patients tended to have a lower protein diet, anthropometry data, and serum albumin, but the C reactive protein and interleukin-6 increased significantly. The MRI showed that HD patients had less muscle mass and a lower muscle/total ratio, but the fat/muscle and IMAT was higher when compared to the Control group. The muscle fiber showed atrophy and fat accumulation in the biceps samples come from the HD patients. Moreover, we found that the HD patients presented with a high level of plasma fasting insulin and increased HOMA-IR which negatively correlated with the muscle/ total ratio, but positively with the fat/muscle ratio. Conclusions Muscle wasting presented early before an obvious malnutrition condition emerged in HD patients. The main morphological change was muscle atrophy along with intermuscular lipid accumulation. Insulin resistance was associated with muscle wasting in dialysis patients.
