Lucia Alejandro, Martin Miguel A, Esteve-Lanao Jonathan, San Juan Alejandro F, Rubio Juan C, Oliván Jesús, Arenas Joaquín
Universidad Europea de Madrid, Department of Physiology, Madrid 28670, Spain.
BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.07.2008.0535. Epub 2009 Jan 23.
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 (VO(2MAX)) of the study subject was exceptionally high (83.6 mlO(2)/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/m(2)).
本文报道了一名精英男性白人耐力跑运动员（28岁）的案例，尽管他携带编码骨骼肌特异性同工型AMP脱氨酶（一种对肌肉代谢很重要的酶）的基因（AMPD1）中的C34T突变，但他仍是世界上最优秀的非非洲裔跑步运动员之一。久坐不动的白人中突变等位基因的频率为8%-11%。先前的研究表明，这种突变至少在纯合子中会损害未经训练者的运动能力及其可训练性。该研究对象的最大摄氧量（VO₂MAX）异常高（83.6 mlO₂/kg/min），而在接近最大跑步速度时，他的氨和乳酸浓度低于其他未携带该突变的世界级跑步运动员。该研究对象的部分代谢缺陷可能通过其格外有利的人体测量特征（体重指数18.2 kg/m²）得到了弥补。
