Research
Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital
Published

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

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Carotid plaque thickness is increased in chronic kidney disease and associated with carotid and coronary calcification

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Investigating the inflammation marker neutrophil-to-lymphocyte ratio in Danish blood donors with restless legs syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Lens fluorescence and skin fluorescence in the Copenhagen Twin Cohort Eye Study: Covariates and heritability

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Antigenic and immunogenic evaluation of permutations of soluble hepatitis C virus envelope protein E2 and E1 antigens

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Coagulation parameters in the newborn and infant - the Copenhagen Baby Heart and COMPARE studies

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Lipoprotein(a) levels at birth and in early childhood: The COMPARE Study

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Ticagrelor and the risk of Staphylococcus aureus bacteraemia and other infections

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Lung Ultrasound Findings Associated With COVID-19 ARDS, ICU Admission, and All-Cause Mortality

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Testing Denmark: a Danish Nationwide Surveillance Study of COVID-19

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Christian Munch Hagen
  • Frederik Heurlin Aidt
  • Paula L Hedley
  • Morten K. Jensen
  • Ole Havndrup
  • Jørgen K Kanters
  • Johanna C Moolman-Smook
  • Severin O Larsen
  • Henning Bundgaard
  • Michael Christiansen
View graph of relations
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.
Original languageEnglish
JournalP L o S One
Volume8
Issue number8
Pages (from-to)e71904
ISSN1932-6203
DOIs
Publication statusPublished - 2013

ID: 42917474