title: Three mitochondrial DNA restriction polymorphisms in elite endurance athletes and sedentary controls.
abstract: 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.
authors.affiliation: Physical Activity Sciences Laboratory, Laval University, Québec, Canada.
authors.forename: M A
authors.initials: MA
authors.lastname: Rivera
authors.forename: B
authors.initials: B
authors.lastname: Wolfarth
authors.forename: F T
authors.initials: FT
authors.lastname: Dionne
authors.forename: M
authors.initials: M
authors.lastname: Chagnon
authors.forename: J A
authors.initials: JA
authors.lastname: Simoneau
authors.forename: M R
authors.initials: MR
authors.lastname: Boulay
authors.forename: T M
authors.initials: TM
authors.lastname: Song
authors.forename: L
authors.initials: L
authors.lastname: Perusse
authors.forename: J
authors.initials: J
authors.lastname: Gagnon
authors.forename: A S
authors.initials: AS
authors.lastname: Leon
authors.forename: D C
authors.initials: DC
authors.lastname: Rao
authors.forename: J S
authors.initials: JS
authors.lastname: Skinner
authors.forename: J H
authors.initials: JH
authors.lastname: Wilmore
authors.forename: J
authors.initials: J
authors.lastname: Keul
authors.forename: C
authors.initials: C
authors.lastname: Bouchard
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D004272:DNA, Mitochondrial; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009245:NADH Dehydrogenase / Q000235:genetics*; D010101:Oxygen Consumption; D010807:Physical Endurance / Q000235:genetics*; D010809:Physical Fitness; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping
chemical_list: D004272:DNA, Mitochondrial; D009245:NADH Dehydrogenase