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

Sports
Gabriel Baltazar-MartinsJuan Del Coso

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 debated about why a polymorphism that produces a lack of a muscle protein has endured natural selection. Several investigations have found that α-actinin-3 deficiency due to XX homozygosity in the ACTN3 R577X polymorphism can negatively affect sports performance through several structural, metabolic, or signaling changes. In addition, new evidence suggests that α-actinin-3 deficiency may also impact sports performance through indirect factors such ...Continue Reading

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Citations

Mar 26, 2021·Frontiers in Genetics·Manuel CorpasEdmund Lehmann
Jul 21, 2021·Journal of Sport and Health Science·Hassane ZouhalAbderraouf Ben Abderrahman
Jun 15, 2021·European Journal of Sport Science·Silvia Camporesi, Mika Hämäläinen

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