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Association between Mitochondrial DNA Sequence Variants and V˙O2 max Trainability.


ABSTRACT:

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.

SUBMITTER: Vellers HL 

PROVIDER: S-EPMC9131492 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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Association between Mitochondrial DNA Sequence Variants and V˙O2 max Trainability.

Vellers Heather L HL   Verhein Kirsten C KC   Burkholder Adam B AB   Lee Jaehoon J   Kim Youngmin Y   Lightfoot J Timothy JT   Shi Min M   Weinberg Clarice R CR   Sarzynski Mark A MA   Bouchard Claude C   Kleeberger Steven R SR  

Medicine and science in sports and exercise 20201101 11


<h4>Purpose</h4>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.<h4>Methods</h4>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-  ...[more]

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