University of Oulu

Kiiskilä, J., Moilanen, J.S., Kytövuori, L. et al. Analysis of functional variants in mitochondrial DNA of Finnish athletes. BMC Genomics 20, 784 (2019).

Analysis of functional variants in mitochondrial DNA of Finnish athletes

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Author: Kiiskilä, Jukka1,2; Moilanen, Jukka S.3,4; Kytövuori, Laura1,2;
Organizations: 1Research Unit of Clinical Neuroscience, Neurology, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland
2Department of Neurology and Medical Research Center, Oulu University Hospital, Oulu, Finland
3PEDEGO Research Unit, Medical Research Center Oulu, University of Oulu, Oulu, Finland
4Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland
5Division of Neonatology, Rady Children’s Hospital San Diego, University of California San Diego, San Diego, California, USA
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.5 MB)
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Language: English
Published: Springer Nature, 2019
Publish Date: 2020-03-25


Background: We have previously reported on paucity of mitochondrial DNA (mtDNA) haplogroups J and K among Finnish endurance athletes. Here we aimed to further explore differences in mtDNA variants between elite endurance and sprint athletes. For this purpose, we determined the rate of functional variants and the mutational load in mtDNA of Finnish athletes (n = 141) and controls (n = 77) and determined the sequence variation in haplogroups.

Results: The distribution of rare and common functional variants differed between endurance athletes, sprint athletes and the controls (p = 0.04) so that rare variants occurred at a higher frequency among endurance athletes. Furthermore, the ratio between rare and common functional variants in haplogroups J and K was 0.42 of that in the remaining haplogroups (p = 0.0005). The subjects with haplogroup J and K also showed a higher mean level of nonsynonymous mutational load attributed to common variants than subjects with the other haplogroups. Interestingly, two of the rare variants detected in the sprint athletes were the disease-causing mutations m.3243A > G in MT-TL1 and m.1555A > G in MT-RNR1.

Conclusions: We propose that endurance athletes harbor an excess of rare mtDNA variants that may be beneficial for oxidative phosphorylation, while sprint athletes may tolerate deleterious mtDNA variants that have detrimental effect on oxidative phosphorylation system. Some of the nonsynonymous mutations defining haplogroup J and K may produce an uncoupling effect on oxidative phosphorylation thus favoring sprint rather than endurance performance.

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Series: BMC genomics
ISSN: 1471-2164
ISSN-E: 1471-2164
ISSN-L: 1471-2164
Volume: 20
Issue: 1
Article number: 784
DOI: 10.1186/s12864-019-6171-6
Type of Publication: A1 Journal article – refereed
Field of Science: 1184 Genetics, developmental biology, physiology
Funding: This study was funded by grants from the Sigrid Juselius Foundation. The funding body did not have any role in the design of the study, collection, analysis or interpretation of the data or in writing of the manuscript.
Copyright information: © The Author(s). 2019. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.