Dataset Information

Investigating the influence of mtDNA and nuclear encoded mitochondrial variants on high intensity interval training outcomes.

ABSTRACT: Mitochondria supply intracellular energy requirements during exercise. Specific mitochondrial haplogroups and mitochondrial genetic variants have been associated with athletic performance, and exercise responses. However, these associations were discovered using underpowered, candidate gene approaches, and consequently have not been replicated. Here, we used whole-mitochondrial genome sequencing, in conjunction with high-throughput genotyping arrays, to discover novel genetic variants associated with exercise responses in the Gene SMART (Skeletal Muscle Adaptive Response to Training) cohort (n = 62 completed). We performed a Principal Component Analysis of cohort aerobic fitness measures to build composite traits and test for variants associated with exercise outcomes. None of the mitochondrial genetic variants but eight nuclear encoded variants in seven separate genes were found to be associated with exercise responses (FDR < 0.05) (rs11061368: DIABLO, rs113400963: FAM185A, rs6062129 and rs6121949: MTG2, rs7231304: AFG3L2, rs2041840: NDUFAF7, rs7085433: TIMM23, rs1063271: SPTLC2). Additionally, we outline potential mechanisms by which these variants may be contributing to exercise phenotypes. Our data suggest novel nuclear-encoded SNPs and mitochondrial pathways associated with exercise response phenotypes. Future studies should focus on validating these variants across different cohorts and ethnicities.

SUBMITTER: Harvey NR

PROVIDER: S-EPMC7338527 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

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Investigating the influence of mtDNA and nuclear encoded mitochondrial variants on high intensity interval training outcomes.

Harvey N R NR Voisin S S Lea R A RA Yan X X Benton M C MC Papadimitriou I D ID Jacques M M Haupt L M LM Ashton K J KJ Eynon N N Griffiths L R LR

Scientific reports 20200706 1

Mitochondria supply intracellular energy requirements during exercise. Specific mitochondrial haplogroups and mitochondrial genetic variants have been associated with athletic performance, and exercise responses. However, these associations were discovered using underpowered, candidate gene approaches, and consequently have not been replicated. Here, we used whole-mitochondrial genome sequencing, in conjunction with high-throughput genotyping arrays, to discover novel genetic variants associated ...[more]

PMID: 32632177

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Project description:BackgroundPoststroke guidelines recommend moderate-intensity, continuous aerobic training (MCT) to improve aerobic capacity and mobility after stroke. High-intensity interval training (HIT) has been shown to be more effective than MCT among healthy adults and people with heart disease. However, HIT and MCT have not been compared previously among people with stroke.ObjectiveThe purpose of this study was to assess the feasibility and justification for a definitive randomized controlled trial (RCT) comparing HIT and MCT in people with chronic stroke.DesignA preliminary RCT was conducted.SettingThe study was conducted in a cardiovascular stress laboratory and a rehabilitation research laboratory.PatientsAmbulatory people at least 6 months poststroke participated.InterventionBoth groups trained 25 minutes, 3 times per week, for 4 weeks. The HIT strategy involved 30-second bursts at maximum-tolerated treadmill speed alternated with 30- to 60-second rest periods. The MCT strategy involved continuous treadmill walking at 45% to 50% of heart rate reserve.MeasurementsMeasurements included recruitment and attendance statistics, qualitative HIT acceptability, adverse events, and the following blinded outcome variables: peak oxygen uptake, ventilatory threshold, metabolic cost of gait, fractional utilization, fastest treadmill speed, 10-Meter Walk Test, and Six-Minute Walk Test.ResultsDuring the 8-month recruitment period, 26 participants consented to participate. Eighteen participants were enrolled and randomly assigned to either the HIT group (n=13) or the MCT group (n=5). Eleven out of the 13 HIT group participants attended all sessions. Participants reported that HIT was acceptable and no serious adverse events occurred. Standardized effect size estimates between groups were moderate to very large for most outcome measures. Only 30% of treadmill speed gains in the HIT group translated into overground gait speed improvement.LimitationsThe study was not designed to definitively test safety or efficacy.ConclusionsAlthough further protocol optimization is needed to improve overground translation of treadmill gains, a definitive RCT comparing HIT and MCT appears to be feasible and warranted.

Dataset Information

Investigating the influence of mtDNA and nuclear encoded mitochondrial variants on high intensity interval training outcomes.

Publications

Investigating the influence of mtDNA and nuclear encoded mitochondrial variants on high intensity interval training outcomes.

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