Effect of ACTN3 Genotype on Sports Performance, Exercise-Induced Muscle Damage, and Injury Epidemiology.

ABSTRACT: Genetic factors play a significant role in athletic performance and its related phenotypes such as power, strength and aerobic capacity. In this regard, the lack of a muscle protein due to a genetic polymorphism has been found to affect sport performance in a wide variety of ways. α-actinin-3 is a protein located within the skeletal muscle with a key role in the production of sarcomeric force. A common stop-codon polymorphism (rs1815739; R577X) in the gene that codes for α-actinin-3 (ACTN3) produces individuals with the XX genotype that lack expression of a functional α-actinin-3. In contrast, individuals with the R-allele (i.e., RX vs. RR genotypes) in this polymorphism can express α-actinin-3. Interestingly, around ~18% of the world population have the XX genotype and much has been debat

SUBMITTER: Baltazar-Martins G 

PROVIDER: S-EPMC7404684 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature