Dionne F T, Turcotte L, Thibault M C, Boulay M R, Skinner J S, Bouchard C
Physical Activity Sciences Laboratory, Laval University, Ste-Foy, Québec, Canada.
Med Sci Sports Exerc. 1993 Jul;25(7):766-74. doi: 10.1249/00005768-199307000-00002.
Mitochondrial DNA sequence variation was determined in 46 sedentary young adult males who took part in ergocycle endurance training programs in two laboratories to assess whether mitochondrial DNA variants were associated with individual differences in maximal oxygen uptake (VO2max) and its response to training. VO2max was obtained from a progressive ergocycle test to exhaustion. White blood cell mitochondrial DNA was characterized with the restriction fragment length polymorphism (RFLP) technique using 22 restriction enzymes and human mitochondrial DNA as a probe for hybridization. Multiple mitochondrial DNA variants were detected with 15 of the enzymes. Some subjects exhibited many RFLPs, while others showed no variation. These RFLPs (morphs) were generated by base substitutions located in gene regions coding for mitochondrial proteins as well as in the noncoding regions. Carriers of three mitochondrial DNA morphs, two in the subunit 5 of the NADH dehydrogenase gene and one in the tRNA for threonine, had a VO2max (ml.kg-1.min-1) in the untrained state significantly higher than noncarriers, while carriers of one mitochondrial DNA morph in subunit 2 of NADH dehydrogenase had a lower initial VO2max. Endurance training increased VO2max by a mean of 0.5 l of O2, with individual differences ranging from gains of 0.06 to 1.03. After adjustment for training site and initial VO2max, a lower response was observed for three carriers of a variant in subunit 5 of the NADH dehydrogenase detected with HincII (mean gain of 0.28 l; P < 0.05). These results suggest that sequence variation in mitochondrial DNA may contribute to individual difference in VO2max and its response to training.
对46名久坐不动的年轻成年男性进行了线粒体DNA序列变异测定，这些男性在两个实验室参加了自行车耐力训练项目，以评估线粒体DNA变异是否与最大摄氧量（VO2max）的个体差异及其对训练的反应有关。VO2max通过递增式自行车耐力测试直至力竭来获得。使用22种限制性内切酶和人类线粒体DNA作为杂交探针，通过限制性片段长度多态性（RFLP）技术对白细胞线粒体DNA进行表征。用其中15种酶检测到多个线粒体DNA变异。一些受试者表现出许多RFLP，而另一些则没有变异。这些RFLP（形态）是由位于编码线粒体蛋白的基因区域以及非编码区域的碱基替换产生的。三种线粒体DNA形态的携带者，其中两种在NADH脱氢酶基因的亚基5中，一种在苏氨酸的tRNA中，在未训练状态下的VO2max（毫升·千克-1·分钟-1）显著高于非携带者，而NADH脱氢酶亚基2中一种线粒体DNA形态的携带者初始VO2max较低。耐力训练使VO2max平均增加0.5升氧气，个体差异范围为0.06至1.03升。在调整训练地点和初始VO2max后，用HincII检测到的NADH脱氢酶亚基5中一种变异的三名携带者的反应较低（平均增加0.28升；P<0.05）。这些结果表明，线粒体DNA序列变异可能导致VO2max的个体差异及其对训练的反应。
