ACTN3 R577X Genotype Is Associated with ACTN3 Protein Expression Levels and Myosin Heavy Chain Composition in Japanese College-Level Male Sprinters

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ACTN3 (R577X) genotype is associated with fiber type distribution.

alpha-Actinin-3 is a Z-disc structural protein found only in type II muscle fibers. The X allele of the R577X polymorphism in the ACTN3 gene results in a premature stop codon and alpha-actinin-3 deficiency in XX homozygotes. Associations between the R577X polymorphism and the muscle-power performance of elite athletes have been described earlier. About 45% of the fiber type proportions are dete...

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ACTN3 genotype is associated with human elite athletic performance.

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Association of the ACTN3 R577X polymorphism with glucose tolerance and gene expression of sarcomeric proteins in human skeletal muscle.

A common polymorphism (R577X) in the α-actinin (ACTN) 3 gene, which leads to complete deficiency of a functional protein in skeletal muscle, could directly influence metabolism in the context of health and disease. Therefore, we tested the hypothesis that states of glucose tolerance are associated with the ACTN3 R577X genotype. We analyzed the prevalence of the ACTN3 R577X polymorphism in peopl...

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Association of the ACTN3 R557X polymorphism with glucose tolerance and gene expression of sarcomeric proteins in human skeletal muscle

A common polymorphism (R577X) in the a-actinin (ACTN) 3 gene, which leads to complete deficiency of a functional protein in skeletal muscle, could directly influence metabolism in the context of health and disease. Therefore, we tested the hypothesis that states of glucose tolerance are associated with the ACTN3 R577X genotype. We analyzed the prevalence of the ACTN3 R577X polymorphism in peopl...

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ژورنال

عنوان ژورنال: Juntendo Medical Journal

سال: 2019

ISSN: 2187-9737,2188-2126

DOI: 10.14789/jmj.2019.65.jmj19-oa08