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More than a ‘speed gene’: ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries

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dc.contributor.author Coso, Juan del
dc.contributor.author Hiam, Danielle
dc.contributor.author Houweling, Peter J.
dc.contributor.author Pérez, Laura M.
dc.contributor.author Eynon, Nir
dc.contributor.author Lucía Mulas, Alejandro
dc.date.accessioned 2019-01-25T16:21:34Z
dc.date.available 2019-01-25T16:21:34Z
dc.date.issued 2019
dc.identifier.citation Del Coso, J., Hiam, D., Houweling, P., Pérez, L. M., Eynon, N., & Lucía, A. (2019). More than a ‘speed gene’: ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries. European journal of applied physiology, 119(1), 49–60. https://doi.org/10.1007/s00421-018-4010-0 spa
dc.identifier.issn 1439-6319
dc.identifier.issn 1439-6327
dc.identifier.uri http://hdl.handle.net/11268/7746
dc.description.abstract A common null polymorphism (rs1815739; R577X) in the gene that codes for α-actinin-3 (ACTN3) has been related to different aspects of exercise performance. Individuals who are homozygous for the X allele are unable to express the α-actinin-3 protein in the muscle as opposed to those with the RX or RR genotype. α-actinin-3 deficiency in the muscle does not result in any disease. However, the different ACTN3 genotypes can modify the functioning of skeletal muscle during exercise through structural, metabolic or signaling changes, as shown in both humans and in the mouse model. Specifically, the ACTN3 RR genotype might favor the ability to generate powerful and forceful muscle contractions. Leading to an overall advantage of the RR genotype for enhanced performance in some speed and power-oriented sports. In addition, RR genotype might also favor the ability to withstand exercise-induced muscle damage, while the beneficial influence of the XX genotype on aerobic exercise performance needs to be validated in human studies. More information is required to unveil the association of ACTN3 genotype with trainability and injury risk during acute or chronic exercise. spa
dc.description.sponsorship SIN FINANCIACIÓN spa
dc.language.iso eng spa
dc.title More than a ‘speed gene’: ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries spa
dc.type article spa
dc.description.impact 2.401 JCR (2017) Q2, 28/81 Sport Sciences; Q3, 45/83 Physiology spa
dc.identifier.doi 10.1007/s00421-018-4010-0
dc.rights.accessRights closedAccess spa
dc.subject.uem Genética humana spa
dc.subject.uem Efectos fisiológicos spa
dc.subject.unesco Efectos fisiológicos spa
dc.subject.unesco Genética humana spa
dc.description.filiation UEM spa
dc.relation.publisherversion http://ezproxy.universidadeuropea.es/login?url=http:/ /dx.doi.org/10.1007/s00421-018-4010-0 spa
dc.peerreviewed Si spa


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