Rivera M A, Wolfarth B, Dionne F T, Chagnon M, Simoneau J A, Boulay M R, Song T M, Perusse L, Gagnon J, Leon A S, Rao D C, Skinner J S, Wilmore J H, Keul J, Bouchard C
Physical Activity Sciences Laboratory, Laval University, Québec, Canada.
Med Sci Sports Exerc. 1998 May;30(5):687-90. doi: 10.1097/00005768-199805000-00007.
This study examined the associations between elite endurance athlete (EEA) status and three mitochondrial DNA (mtDNA) restriction fragment length polymorphisms (RFLPs) in the subunit 5 of the NADH dehydrogenase (MTND5) locus and one in the D-loop region. A group of 125 Caucasian male EEA well endowed with the phenotypic expression of VO2max (78.9 +/- 3.8 mL x kg(-1) x min(-1), mean +/- SD) and 65 sedentary controls (SCON: VO2max = 39.8 +/- 8.2 mL x kg(-1) x min(-1)) participated in the study. VO2max was determined during an incremental exercise test on a cycle ergometer or a motor-driven treadmill. mtDNA was extracted from white blood cells or lymphoblastoid cell lines and specific regions were amplified by the polymerase chain reaction. The Pearson Chi-square statistic test and Fisher exact test revealed no significant association (P > 0.05) between any of the three mtDNA RFLPs and EEA status. The MTND5-BamHI RFLP at bp 13,470 (morph 3) was found in 12.8% of the EEA and 12.3% of the SCON (chi2 = 0.009, P = 0.92). The prevalence of the MTND5-Ncil RFLP at bp 13,364 (morph 2) was 12.9% and 14% for the EEA and SCON, respectively (chi2 = 0.043, P = 0.83). The D-loop-KpnI RFLP at bp 16,133 (morph 1) was found in 5.8% of the EEA and in 1.6% of the SCON (Fisher exact test = 1.80, P = 0.18). The MTND5-HincII RFLP at bp 12,406 (morph 1) was not present in this study sample. These results indicate no evidence for a difference in the frequency of two polymorphic restriction sites in the subunit 5 of the NADH dehydrogenase gene of mtDNA and one in the D-loop region between elite endurance athletes and sedentary controls.
