Mitochondrial Haplogroups Modify the Risk of Developing Hypertrophic Cardiomyopathy in a Danish Population

• DOI: 10.1371/journal.pone.0071904
• Publication Date: 2013-08-05T17:46:34Z
• Authors: Christian M. Hagen; Frederik H. Aidt; Paula L. Hedley; Morten K. Jensen; Ole Havndrup; Jørgen K. Kanters; Johanna C. Moolma...; Severin O. Larsen; Henning Bundgaard; Michael Christiansen
• Keywords: Haplogroup

Hypertrophic cardiomyopathy (HCM) is a genetic disorder caused by mutations in genes coding for proteins involved sarcomere function. The disease associated with mitochondrial dysfunction. Evolutionarily developed variation DNA (mtDNA), defining mtDNA haplogroups and haplogroup clusters, functional differences function susceptibility to various diseases, including ischemic cardiomyopathy. We hypothesized that haplogroups, particular H, J K, might modify HCM. Mitochondrial DNA, isolated from blood, was sequenced identified 91 probands association HCM ascertained using two Danish control populations. Haplogroup H more prevalent patients, 60% versus 46% (p = 0.006) 41% 0.003), the less prevalent, 3% vs. 12.4% 0.017) 9.1%, 0.06). Likewise, UK cluster HCM, 11% 22.1% 0.02) 22.8% 0.04). These results indicate constitutes factor are protective factors development of Thus, constitutive may influence occurrence clinical presentation This could explain some phenotypic variability fact also modifying suggests haplotypes be significance determining whether physiological hypertrophy develops into myopathy. have potential becoming significant biomarkers