TY - JOUR
T1 - Association between Mitochondrial DNA Sequence Variants and V˙O2max Trainability
AU - Vellers, Heather L.
AU - Verhein, Kirsten C.
AU - Burkholder, Adam B.
AU - Lee, Jaehoon
AU - Kim, Youngmin
AU - Lightfoot, J. Timothy
AU - Shi, M. I.N.
AU - Weinberg, Clarice R.
AU - Sarzynski, Mark A.
AU - Bouchard, Claude
AU - Kleeberger, Steven R.
N1 - Publisher Copyright:
© Lippincott Williams & Wilkins.
PY - 2020/11/1
Y1 - 2020/11/1
N2 - 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.
AB - 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.
KW - ENDURANCE TRAINING
KW - HAPLOGROUPS
KW - HETEROPLASMY
KW - MITOCHONDRIAL GENETICS
UR - http://www.scopus.com/inward/record.url?scp=85093705543&partnerID=8YFLogxK
U2 - 10.1249/MSS.0000000000002390
DO - 10.1249/MSS.0000000000002390
M3 - Article
C2 - 33064405
AN - SCOPUS:85093705543
SN - 0195-9131
VL - 52
SP - 2303
EP - 2309
JO - Medicine and Science in Sports and Exercise
JF - Medicine and Science in Sports and Exercise
IS - 11
ER -