C34T mutation of the AMPD1 gene in an elite white runner

British Journal of Sports Medicine
Alejandro LuciaJ Arenas

Abstract

The case is reported of an elite, male, white endurance runner (28 years of age), who is one of the best non-African runners in the world despite carrying the C34T mutation in the gene (AMPD1) that encodes the skeletal muscle specific isoform of AMP deaminase, an enzyme that plays an important role in muscle metabolism. The frequency of the mutant allele in sedentary white people is 8-11%. Previous research has shown that this mutation, at least in homozygotes, can impair the exercise capacity of untrained people and their trainability. The maximum oxygen uptake of the study subject was exceptionally high (83.6 ml/kg/min), whereas his ammonia and lactate concentrations at high submaximal running speeds were lower than those of other world class runners who are not carriers of the mutation. The partial metabolic deficiency of the study subject is possibly compensated for by his exceptionally favourable anthropometric characteristics (body mass index 18.2 kg/m2).

References

Jul 15, 1992·Proceedings of the National Academy of Sciences of the United States of America·T MorisakiE W Holmes
Feb 1, 1995·Muscle & Nerve·B NormanE Jansson
Dec 22, 2004·The Journal of Physiology·Lars NyboNiels H Secher

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Citations

May 18, 2013·Sports Medicine·Nir EynonDavid J Bishop
Jul 19, 2013·Neurology Research International·Heather KistkaJ Mocco
Mar 12, 2013·Neurology Research International·Jena N MillsWilliam J Mack
Jul 7, 2015·Scandinavian Journal of Medicine & Science in Sports·C G M SantosR Silva
Jun 20, 2014·Pflügers Archiv : European journal of physiology·Orsolya MartonZsolt Radak
Sep 29, 2007·The Journal of Physiology·Michael J Joyner, Edward F Coyle

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