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Frequency of the C34T mutation of the AMPD1 gene in world-class endurance athletes: Does this mutation impair performance?

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dc.contributor.author Rubio, Juan Carlos
dc.contributor.author Martín, Miguel Ángel
dc.contributor.author Rabadán, Manuel
dc.contributor.author Gómez Gallego, Félix
dc.contributor.author San Juan, Alejandro F.
dc.contributor.author Alonso, Juan Manuel
dc.contributor.author Lucía Mulas, Alejandro
dc.date.accessioned 2016-07-28T10:59:31Z
dc.date.available 2016-07-28T10:59:31Z
dc.date.issued 2005
dc.identifier.citation Rubio, J. C., Martín, M. A., Rabadán, M., Gómez-Gallego, F., San Juan, A. F., Alonso, J. M.,… Lucía, A. (2005). Frequency of the C34T mutation of the AMPD1 gene in world-class endurance athletes: Does this mutation impair performance?. Journal of Applied Physiology, 98(6), 2108-2112. spa
dc.identifier.issn 87507587
dc.identifier.issn 15221601
dc.identifier.uri http://hdl.handle.net/11268/5507
dc.description.abstract The C34T mutation in the gene encoding for the skeletal muscle-specific isoform of AMP deaminase (AMPD1) is a common mutation among Caucasians (i.e., one of five individuals) that can impair exercise capacity. The purpose of this study was twofold. First, we determined the frequency distribution of the C34T mutation in a group of top-level Caucasian (Spanish) male endurance athletes (cyclists and runners, n = 104). This group was compared with randomly selected Caucasian (Spanish) healthy (asymptomatic) nonathletes (n = 100). The second aim of this study was to compare common laboratory indexes of endurance performance (maximal oxygen uptake or ventilatory thresholds) within the group of athletes depending on their C34T AMPD1 genotype. The frequency of the mutant T allele was lower (P < 0.05) in the group of athletes (4.3%) compared with controls (8.5%). On the other hand, indexes of endurance performance did not differ (P > 0.05) between athlete carriers or noncarriers of the C34T mutation (e.g., maximal oxygen uptake 72.3 +/- 4.6 vs. 73.5 +/- 5.9 ml.kg(-1).min(-1), respectively). In conclusion, although the frequency distribution of the mutant T allele of the AMPD1 genotype is lower in Caucasian elite endurance athletes than in controls, the C34T mutation does not significantly impair endurance performance once the elite-level status has been reached in sports. spa
dc.description.sponsorship SIN FINANCIACIÓN spa
dc.language.iso eng spa
dc.title Frequency of the C34T mutation of the AMPD1 gene in world-class endurance athletes: Does this mutation impair performance? spa
dc.type article spa
dc.description.impact 3.037 JCR (2005) Q1, 3/70 Sport sciences; Q2, 23/75 Physiology spa
dc.identifier.doi 10.1152/japplphysiol.01371.2004
dc.rights.accessRights openAccess spa
dc.subject.uem Deportes - Accidentes y lesiones spa
dc.subject.uem Deportes - Aspectos de la salud spa
dc.subject.unesco Fisiología humana spa
dc.subject.unesco Medicina deportiva spa
dc.description.filiation UEM spa
dc.peerreviewed Si spa


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