title: Frequency of the C34T mutation of the AMPD1 gene in world-class endurance athletes: does this mutation impair performance?
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.
authors.affiliation: Research Centre, University Hospital 12 de Octubre, Madrid, Spain.
authors.forename: Juan C
authors.initials: JC
authors.lastname: Rubio
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Martín
authors.forename: Manuel
authors.initials: M
authors.lastname: Rabadán
authors.forename: Félix
authors.initials: F
authors.lastname: Gómez-Gallego
authors.forename: Alejandro F
authors.initials: AF
authors.lastname: San Juan
authors.forename: Juan M
authors.initials: JM
authors.lastname: Alonso
authors.forename: José L
authors.initials: JL
authors.lastname: Chicharro
authors.forename: Margarita
authors.initials: M
authors.lastname: Pérez
authors.forename: Joaquín
authors.initials: J
authors.lastname: Arenas
authors.forename: Alejandro
authors.initials: A
authors.lastname: Lucia
mesh_terms: D000659:AMP Deaminase / Q000235:genetics* / Q000502:physiology*; D000328:Adult; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009154:Mutation / Q000502:physiology; D010101:Oxygen Consumption / Q000502:physiology*; D010641:Phenotype; D010807:Physical Endurance / Q000235:genetics*; D005082:Physical Exertion / Q000502:physiology*; D013030:Spain / Q000453:epidemiology; D013177:Sports / Q000502:physiology* / Q000706:statistics & numerical data; D013647:Task Performance and Analysis; D044465:White People / Q000235:genetics / Q000706:statistics & numerical data
chemical_list: D000659:AMP Deaminase