Kytövuori Laura, Junttila Juhani, Huikuri Heikki, Keinänen-Kiukaanniemi Sirkka, Majamaa Kari, Martikainen Mika H
Research Unit of Clinical Neuroscience, University of Oulu, PO Box 5000, 90014, Oulu, Finland.
Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
Int J Legal Med. 2020 Jan;134(1):39-44. doi: 10.1007/s00414-019-02091-4. Epub 2019 May 31.
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.
心肌病和心脏传导缺陷是线粒体疾病的常见表现。先前的研究表明，在心肌中携带致病性线粒体DNA（mtDNA）突变的临床无症状个体可能会以心脏性猝死（SCD）作为线粒体疾病的首发表现。我们在一组280名芬兰受试者中调查了心肌中致病性mtDNA点突变和mtDNA单倍群的作用，这些受试者死于非缺血性SCD，死亡年龄中位数为59岁，并与537名人群对照进行了比较。我们未发现任何常见或新的致病性突变，但SCD受试者中单倍群H1的频率高于537名人群对照（优势比：1.76，95%置信区间：1.02 - 3.04）。我们得出结论，在人群水平上，mtDNA中的致病性点突变不会导致非缺血性SCD，但自然变异可能会改变风险。
