Association between Mitochondrial DNA Sequence Variants and VO2 max Trainability

Heather L Vellers, Kirsten C Verhein, Adam B Burkholder, Jae Hoon Lee, Youngmin Kim, J Timothy Lightfoot, Min Shi, Clarice R Weinberg, Mark A Sarzynski, Claude Bouchard, Steven R Kleeberger

Research output: Contribution to journalArticlepeer-review


PURPOSE: We designed the study to determine whether mitochondrial DNA (mtDNA) haplogroup, sequence, and heteroplasmy differed between individuals previously characterized as low- (LR) or high-responders (HR) as defined by their VO2 max response to a standardized aerobic exercise training program. METHODS: DNA was isolated from whole blood in subjects from the HERITAGE Family Study that were determined to be either HR (n=15) or LR (n=15). mtDNA was amplified by long-range polymerase chain reaction, then tagged with Nextera libraries and sequenced on a MiSeq instrument. RESULTS: Different mtDNA haplogroup subtypes were found in HR and LR individuals. Compared to HR subjects, significantly more LR subjects had variants in 13 sites, including seven in hypervariable (HV) regions: HV2 (G185A: 0 vs 6, p = 0.02; G228A: 0 vs 5, p = 0.04; C295T: 0 vs 6; p = 0.04), HV3 (C462T: 0 vs 5, p = 0.04; T489C: 0 vs 5; p = 0.04), and HV1 (C16068T: 0 vs 6, p = 0.02; T16125C: 0 vs 6, p = 0.02). R
Original languageEnglish
Pages (from-to)2303-2309
JournalMedicine & Science in Sports & Exercise
StatePublished - Oct 2020


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