C34T mutation of the AMPD1 gene in an elite white runner.
Br J Sports Med
; 40(3): e7, 2006 Mar.
Article
en En
| MEDLINE
| ID: mdl-16505069
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).
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Resistencia Física
/
Carrera
/
AMP Desaminasa
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Br J Sports Med
Año:
2006
Tipo del documento:
Article
País de afiliación:
España