ACTN3 R/X gene polymorphism across ethnicity: a brief review of performance gene

AbstractAlpha-actinin-3 (ACTN3) gene is one of the most extensively investigated genes associated with human physical performance. TheACTN3 gene viaACTN3 R/X gene polymorphism codes the ACTN3 protein proteins that are localized at the boundaries of sarcomeres in the contractile apparatus of muscle Z disk. TheACTN3 R allele codes for functioningACTN3 gene that results in the production of ACTN3 protein, while incomplete sequence in theACTN3 X allele, preventing the production of that protein. Given these different physiological functions, possession of theACTN3 R andX alleles may grant beneficial effects of strength/power and endurance activities, respectively. It has remained uncertain if human physical performance is indeed influenced byACTN3 R/X gene polymorphisms as some studies have failed to demonstrate positive findings. It has been speculated that the inconsistencies observed in the present findings may be due to ethnicity differences as the distributions ofACTN3 R/X gene polymorphism has been reported to vary across ethnic groups in general populations worldwide. Therefore, the aim of this review is to provide a brief review ofACTN3 R/X gene polymorphism, including distribution pattern across ethnicity and its association on human physical performance based on population studies. Therefore, this review could serve as the basis for future research towards a better comprehension of the involvement of theACTN3 R/X gene polymorphism on human physical performance across di...
Source: Sport Sciences for Health - Category: Sports Medicine Source Type: research