Article
ACTN3 genotype and modulation of skeletal muscle response to exercise in human subjects.
Journal of applied physiology (Bethesda, Md. : 1985) - 1 May 2014
Norman Barbara, Esbjörnsson Mona, Rundqvist Håkan, Österlund Ted, Glenmark Birgitta, Jansson Eva
Abstract excerpt
α-Actinin-3 is a Z-disc protein expressed only in type II muscle fibers. A polymorphism in the ACTN3 gene (R577X) results in lack of α-actinin-3 in XX genotype. The prevalence of the mutated X-allele is lower among power/sprint oriented athletes compared with controls, indicating that the lack of α-actinin-3 is detrimental in these sports, but a mechanistic link has not been established. Results from...
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