Effect of ACTN3 genotype on sports performance, exercise-induced muscle damage, and injury epidemiology
Deutscher übersetzter Titel: | Auswirkung des ACTN3-Genotyps auf die sportliche Leistung, belastungsbedingte Muskelschädigungen und Verletzungsepidemiologie |
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Autor: | Baltazar-Martins, Gabriel; Gutiérrez-Hellín, Jorge; Aguilar-Navarro, Millán; Ruiz-Moreno, Carlos; Moreno-Pérez, Víctor; López-Samanes, Álvaro; Domínguez, Raúl; Del Coso, Juan |
Erschienen in: | Sports |
Veröffentlicht: | 8 (2020), 7, Art.-ID 99, [12 S.], Lit. |
Format: | Literatur (SPOLIT) |
Publikationstyp: | Zeitschriftenartikel |
Medienart: | Elektronische Ressource (online) |
Sprache: | Englisch |
ISSN: | 2075-4663 |
DOI: | 10.3390/sports8070099 |
Schlagworte: | |
Online Zugang: | |
Erfassungsnummer: | PU202010008792 |
Quelle: | BISp |
Abstract des Autors
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 a higher risk for injury or lower resistance to muscle-damaging exercise. The purpose of this discussion is to provide a clear explanation of the effect of α-actinin-3 deficiency due to the ACTN3 XX genotype on sport. Key focus has been provided about the effect of α-actinin-3 deficiency on morphologic changes in skeletal muscle, on the low frequency of XX athletes in some athletic disciplines, and on injury epidemiology.