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Myth exploded
C34T mutation of the AMPD1 gene in an elite white runner
  1. Alejandro Lucia1,
  2. Miguel A Martin2,
  3. Jonathan Esteve-Lanao1,
  4. Alejandro F San Juan1,
  5. Juan C Rubio2,
  6. Jesús Oliván1,
  7. Joaquín Arenas2
  1. 1
    Universidad Europea de Madrid, Department of Physiology, Madrid 28670, Spain
  2. 2
    Hospital Universitario 12 de Octubre, Genomics Centre, Madrid 28670, Spain
  1. alejandro.lucia{at}uem.es

Summary

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 important 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 (VO2MAX) of the study subject was exceptionally high (83.6 mlO2/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).

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Footnotes

  • Competing interests: None.

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