University of Oulu

Kytövuori, L., Junttila, J., Huikuri, H. et al. Mitochondrial DNA variation in sudden cardiac death: a population-based study. Int J Legal Med 134, 39–44 (2020).

Mitochondrial DNA variation in sudden cardiac death : a population-based study

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Author: Kytövuori, Laura1,2,3; Junttila, Juhani2,4; Huikuri, Heikki2,4;
Organizations: 1Research Unit of Clinical Neuroscience, University of Oulu, PO Box 5000, 90014, Oulu, Finland
2Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland
3Department of Neurology, Oulu University Hospital, PO Box 20, 90029, Oulu, Finland
4Research Unit of Internal Medicine, University of Oulu, PO Box 5000, 90014, Oulu, Finland
5Center for Life Course Health Research, University of Oulu, PO Box 5000, 90014, Oulu, Finland
6Healthcare and Social Services of Selänne, Pyhäjärvi, Finland
7Division of Clinical Neurosciences, University of Turku and Turku University Hospital, Kiinamyllynkatu 4-8, 20520, Turku, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.2 MB)
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Language: English
Published: Springer Nature, 2020
Publish Date: 2020-02-26


Cardiomyopathy and cardiac conduction defects are common manifestations of mitochondrial disease. Previous studies suggest that clinically asymptomatic individuals harbouring pathogenic mitochondrial DNA (mtDNA) mutations in the cardiac muscle may have sudden cardiac death (SCD) as the first manifestation of mitochondrial disease. We investigated the contribution of pathogenic mtDNA point mutations and mtDNA haplogroups in cardiac muscle in a cohort of 280 Finnish subjects that had died from non-ischaemic SCD with the median age of death at 59 years and in 537 population controls. We did not find any common or novel pathogenic mutations, but the frequency of haplogroup H1 was higher in the SCD subjects than that in 537 population controls (odds ratio: 1.76, confidence interval 95%: 1.02–3.04). We conclude that, at the population level, pathogenic point mutations in mtDNA do not contribute to non-ischaemic SCD, but natural variation may modify the risk.

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Series: International journal of legal medicine
ISSN: 0937-9827
ISSN-E: 1437-1596
ISSN-L: 0937-9827
Volume: 134
Pages: 39 - 44
DOI: 10.1007/s00414-019-02091-4
Type of Publication: A1 Journal article – refereed
Field of Science: 3121 General medicine, internal medicine and other clinical medicine
3111 Biomedicine
Funding: Open access funding provided by University of Oulu including Oulu University Hospital. This work was supported by The Sigrid Jusélius Foundation, Finnish Foundation for Cardiovascular Research and by State Research Funding from Oulu University Hospital.
Copyright information: © The Author(s) 2019. Open Access. 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.