Association between Mitochondrial DNA Sequence Variants and V˙O2max Trainability

Heather L. Vellers, Kirsten C. Verhein, Adam B. Burkholder, Jaehoon Lee, Youngmin Kim, J. Timothy Lightfoot, M. I.N. Shi, Clarice R. Weinberg, Mark A. Sarzynski, Claude Bouchard, Steven R. Kleeberger

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


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 maximal oxygen uptake 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 with HR subjects, significantly more LR subjects had variants in 13 sites, including 7 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). Remaining variants were in protein coding genes, mtND1 (1 vs 8, P = 0.02), mtND3 (A10397G: 0 vs 5, P = 0.04), mtND4 (A11250G: 1 vs 8, P = 0.02), mtND5 (G13707A: 0 vs 5, P = 0.04), and mtCYTB (T14797C: 0 vs 5, P = 0.04; C15451A: 1 vs 8, P = 0.02). Average total numbers of heteroplasmies (P = 0.83) and frequency of heteroplasmies (P = 0.05) were similar between the groups. Conclusions Our findings provide specific sites across the mitochondrial genome that may be related to maximal oxygen uptake trainability.

Original languageEnglish
Pages (from-to)2303-2309
Number of pages7
JournalMedicine and Science in Sports and Exercise
Issue number11
StatePublished - Nov 1 2020




Dive into the research topics of 'Association between Mitochondrial DNA Sequence Variants and V˙O2max Trainability'. Together they form a unique fingerprint.

Cite this