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

, Voisin, S., , Yan, X., , Papadimitriou, I. D., Jacques, M., , Ashton, K. J., Eynon, N., & (2020) Investigating the influence of mtDNA and nuclear encoded mitochondrial variants on high intensity interval training outcomes. Scientific Reports, 10(1), Article number: 11089.

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<p>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.</p>

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7 citations in Scopus
5 citations in Web of Science®
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ID Code: 202408
Item Type: Contribution to Journal (Journal Article)
Refereed: Yes
ORCID iD:
Benton, M. C.orcid.org/0000-0003-3442-965X
Haupt, L. M.orcid.org/0000-0002-7735-8110
Griffiths, L. R.orcid.org/0000-0002-6774-5475
Measurements or Duration: 11 pages
DOI: 10.1038/s41598-020-67870-1
ISSN: 2045-2322
Pure ID: 64452106
Divisions: Current > Research Centres > Centre for Biomedical Technologies
Current > Research Centres > Centre for Genomics and Personalised Health
Past > Institutes > Institute of Health and Biomedical Innovation
Current > QUT Faculties and Divisions > Faculty of Engineering
Current > QUT Faculties and Divisions > Faculty of Health
Funding Information: This research was supported by Commonwealth Collaborative Research Network funding to Bond University CRN-AESS. Mr Nicholas Harvey was supported by a PhD stipend also provided by Bond University CRN-AESS. This research was also supported by infrastructure purchased with Australian Government EIF Super Science Funds as part of the Therapeutic Innovation Australia—Queensland Node project (LRG). Nir Eynon is supported by the National Health and Medical Research Council (NHMRC), Australia (NHMRC CDF# APP1140644). Sarah Voisin is also supported by the NHMRC (ECF# APP1157732) and by the Jack Brockhoff foundation.
Copyright Owner: The Author(s)
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Deposited On: 23 Jul 2020 00:49
Last Modified: 20 Jul 2024 19:42