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Mitochondrial haplogroups modify the risk of developing hypertrophic cardiomyopathy in a Danish population

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Authors:
  • Hagen, Christian M ;
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    Heart, Renal and Circulation, Department of Biomedical Sciences, Faculty of Health and Medical Sciences, Københavns Universitet
  • Aidt, Frederik H ;
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    Graduate School of Health and Medical Sciences, Faculty of Health and Medical Sciences, Københavns Universitet
  • Hedley, Paula L ;
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    unknown
  • Jensen, Morten K ;
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    Molpharm Lab, Department of Neuroscience, Faculty of Health and Medical Sciences, Københavns Universitet
  • Havndrup, Ole ;
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    unknown
  • Kanters, Jørgen K. ;
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    Orcid logo0000-0002-3267-4910
    Heart, Renal and Circulation, Department of Biomedical Sciences, Faculty of Health and Medical Sciences, Københavns Universitet
  • Moolman-Smook, Johanna C ;
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    unknown
  • Larsen, Severin O ;
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    unknown
  • Bundgaard, Henning ;
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    Department of Clinical Medicine, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet
  • Christiansen, Michael
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    Teaching, Department of Biomedical Sciences, Faculty of Health and Medical Sciences, Københavns Universitet
DOI:
10.1371/journal.pone.0071904
Abstract:
Hypertrophic cardiomyopathy (HCM) is a genetic disorder caused by mutations in genes coding for proteins involved in sarcomere function. The disease is associated with mitochondrial dysfunction. Evolutionarily developed variation in mitochondrial DNA (mtDNA), defining mtDNA haplogroups and haplogroup clusters, is associated with functional differences in mitochondrial function and susceptibility to various diseases, including ischemic cardiomyopathy. We hypothesized that mtDNA haplogroups, in particular H, J and K, might modify disease susceptibility to HCM. Mitochondrial DNA, isolated from blood, was sequenced and haplogroups identified in 91 probands with HCM. The association with HCM was ascertained using two Danish control populations. Haplogroup H was more prevalent in HCM patients, 60% versus 46% (p = 0.006) and 41% (p = 0.003), in the two control populations. Haplogroup J was less prevalent, 3% vs. 12.4% (p = 0.017) and 9.1%, (p = 0.06). Likewise, the UK haplogroup cluster was less prevalent in HCM, 11% vs. 22.1% (p = 0.02) and 22.8% (p = 0.04). These results indicate that haplogroup H constitutes a susceptibility factor and that haplogroup J and haplogroup cluster UK are protective factors in the development of HCM. Thus, constitutive differences in mitochondrial function may influence the occurrence and clinical presentation of HCM. This could explain some of the phenotypic variability in HCM. The fact that haplogroup H and J are also modifying factors in ischemic cardiomyopathy suggests that mtDNA haplotypes may be of significance in determining whether a physiological hypertrophy develops into myopathy. mtDNA haplotypes may have the potential of becoming significant biomarkers in cardiomyopathy.
Type:
Journal article
Language:
English
Published in:
Plos One, 2013, Vol 8, Issue 8
Keywords:
Journal Article; Research Support, Non-U.S. Gov't
Main Research Area:
Medical science
Publication Status:
Published
Review type:
Peer Review
Submission year:
2013
Scientific Level:
Scientific
ID:
244303344

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