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Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy

Christian M Hagen1, Frederik H Aidt2, Ole Havndrup3

  • 1Department of Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark; Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark.

Plos One
|April 30, 2015
PubMed

Insights

Private mitochondrial DNA mutations are common in hypertrophic cardiomyopathy (HCM) patients. However, this study found these specific mitochondrial variants are rarely associated with the genetic cardiac disease.

Area of Science:

  • Genetics
  • Cardiology
  • Mitochondrial Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a genetic cardiac condition often linked to sarcomeric protein gene mutations.
  • Mitochondrial DNA (mtDNA) haplogroups act as susceptibility factors for HCM.
  • Polymorphic mtDNA variants can influence mitochondrial function and are implicated in degenerative diseases.

Purpose of the Study:

  • To investigate the role of private, non-haplogroup associated mitochondrial variants in the etiology of HCM.
  • To determine if specific, rare mtDNA variants contribute to the development of hypertrophic cardiomyopathy.

Main Methods:

  • Full mtDNA sequencing was performed on 87 Danish HCM patients.
  • Variants were filtered based on coding/non-coding status, global prevalence, haplogroup association, and predicted pathogenicity.
  • Remaining variants underwent detailed analysis for potential association with HCM.

Main Results:

  • A total of 446 mtDNA variants were identified in the HCM patient cohort.
  • After rigorous filtering, only three specific variants (MT-TC: m.5772G>A, MT-TF: m.644A>G, MT-CYB: m.15024G>A, p.C93Y) remained for further investigation.
  • None of the analyzed private mtDNA variants were found to be likely causative agents of HCM.

Conclusions:

  • Private mitochondrial DNA mutations are frequently observed in individuals with hypertrophic cardiomyopathy.
  • Despite their frequency, these private mtDNA variants show a low likelihood of being associated with the etiology of HCM.
  • The study suggests that private mtDNA mutations are rarely, if ever, a direct cause of hypertrophic cardiomyopathy.

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