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Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease

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dc.contributor.author Houweling, Peter J.
dc.contributor.author Papadimitriou, Ioannis D.
dc.contributor.author Seto, Jane T.
dc.contributor.author Pérez, Laura M.
dc.contributor.author Coso, Juan del
dc.contributor.author North, Kathryn N.
dc.contributor.author Lucía Mulas, Alejandro
dc.contributor.author Eynon, Nir
dc.date.accessioned 2019-01-25T15:01:53Z
dc.date.available 2019-01-25T15:01:53Z
dc.date.issued 2018
dc.identifier.citation Houweling, P. J., Papadimitriou, I. D., Seto, J. T., Pérez, L. M., Coso, J. D., North, K. N., ... & Eynon, N. (2018). Is evolutionary loss our gain? The role of ACTN3 p. Arg577Ter (R577X) genotype in athletic performance, ageing, and disease. Human mutation, 39(12), 1774-1787. https://doi.org/10.1002/humu.23663 spa
dc.identifier.issn 1059-7794
dc.identifier.issn 1098-1004
dc.identifier.uri http://hdl.handle.net/11268/7743
dc.description.abstract A common null polymorphism in the ACTN3 gene (rs1815739:C>T) results in replacement of an arginine (R) with a premature stop codon (X) at amino acid 577 in the fast muscle protein α‐actinin‐3. The ACTN3 p.Arg577Ter allele (aka p.R577* or R577X) has undergone positive selection, with an increase in the X allele frequency as modern humans migrated out of Africa into the colder, less species‐rich Eurasian climates suggesting that the absence of α‐actinin‐3 may be beneficial in these conditions. Approximately 1.5 billion people worldwide are completely deficient in α‐actinin‐3. While the absence of α‐actinin‐3 influences skeletal muscle function and metabolism this does not result in overt muscle disease. α‐Actinin‐3 deficiency (ACTN3 XX genotype) is constantly underrepresented in sprint/power performance athletes. However, recent findings from our group and others suggest that the ACTN3 R577X genotype plays a role beyond athletic performance with effects observed in ageing, bone health, and inherited muscle disorders such as McArdle disease and Duchenne muscle dystrophy. In this review, we provide an update on the current knowledge regarding the influence of ACTN3 R577X on skeletal muscle function and its potential biological and clinical implications. We also outline future research directions to explore the role of α‐actinin‐3 in healthy and diseased populations. spa
dc.description.sponsorship SIN FINANCIACIÓN spa
dc.language.iso eng spa
dc.title Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease spa
dc.type article spa
dc.description.impact 5.359 JCR (2017) Q1, 24/171 Genetics & Heredity spa
dc.identifier.doi 10.1002/humu.23663
dc.rights.accessRights closedAccess spa
dc.subject.uem Genética humana spa
dc.subject.uem Atletas spa
dc.subject.unesco Genética humana spa
dc.subject.unesco Atleta spa
dc.description.filiation UEM spa
dc.relation.publisherversion http://ezproxy.universidadeuropea.es/login?url=http:/ /dx.doi.org/10.1002/humu.23663 spa
dc.peerreviewed Si spa


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