dc.creator | Baltazar Martins, Gabriel | es |
dc.creator | Gutiérrez Hellín, Jorge | es |
dc.creator | Aguilar Navarro, Millán | es |
dc.creator | Ruiz Moreno, Carlos | es |
dc.creator | Moreno Pérez, Víctor | es |
dc.creator | López Samanes, Álvaro | es |
dc.creator | Domínguez Herrera, Raúl | es |
dc.creator | del Coso, Juan | es |
dc.date.accessioned | 2023-05-18T12:36:40Z | |
dc.date.available | 2023-05-18T12:36:40Z | |
dc.date.issued | 2020-07-13 | |
dc.identifier.citation | Baltazar Martins, G., Gutiérrez Hellín, J., Aguilar Navarro, M., Ruiz Moreno, C., Moreno Pérez, V., López Samanes, Á.,...,del Coso, J. (2020). Effect of ACTN3 genotype on sports performance, exercise-induced muscle damage, and injury epidemiology. Sports, 8 (7), 99. https://doi.org/10.3390/sports8070099. | |
dc.identifier.issn | 2075-4663 | es |
dc.identifier.uri | https://hdl.handle.net/11441/146352 | |
dc.description.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 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. | es |
dc.format | application/pdf | es |
dc.format.extent | 12 p. | es |
dc.language.iso | eng | es |
dc.publisher | MDPI | es |
dc.relation.ispartof | Sports, 8 (7), 99. | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Genetics | es |
dc.subject | Exercise performance | es |
dc.subject | Elite athlete | es |
dc.subject | Injury risk | es |
dc.subject | Sports performance | es |
dc.subject | Muscle power | es |
dc.title | Effect of ACTN3 genotype on sports performance, exercise-induced muscle damage, and injury epidemiology | es |
dc.type | info:eu-repo/semantics/article | es |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Motricidad Humana y Rendimiento Deportivo | es |
dc.relation.publisherversion | http://doi.org/10.3390/sports8070099 | es |
dc.identifier.doi | 10.3390/sports8070099 | es |
idus.validador.nota | María del Águila | es |
dc.journaltitle | Sports | es |
dc.publication.volumen | 8 | es |
dc.publication.issue | 7 | es |
dc.publication.initialPage | 99 | es |