Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2015 Apr 29;10(4):e0124540.
doi: 10.1371/journal.pone.0124540. eCollection 2015.

Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy

Christian M Hagen  1 , Frederik H Aidt  2 , Ole Havndrup  3 , Paula L Hedley  2 , Morten K Jensen  4 , Jørgen K Kanters  5 , Tam T Pham  2 , Henning Bundgaard  4 , Michael Christiansen  1
Affiliations

Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy

Christian M Hagen et al. PLoS One. .

Abstract

Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disease primarily caused by mutations in genes coding for sarcomeric proteins. A molecular-genetic etiology can be established in ~60% of cases. Evolutionarily conserved mitochondrial DNA (mtDNA) haplogroups are susceptibility factors for HCM. Several polymorphic mtDNA variants are associated with a variety of late-onset degenerative diseases and affect mitochondrial function. We examined the role of private, non-haplogroup associated, mitochondrial variants in the etiology of HCM. In 87 Danish HCM patients, full mtDNA sequencing revealed 446 variants. After elimination of 312 (69.9%) non-coding and synonymous variants, a further 109 (24.4%) with a global prevalence > 0.1%, three (0.7%) haplogroup associated and 19 (2.0%) variants with a low predicted in silico likelihood of pathogenicity, three variants: MT-TC: m.5772G>A, MT-TF: m.644A>G, and MT-CYB: m.15024G>A, p.C93Y remained. A detailed analysis of these variants indicated that none of them are likely to cause HCM. In conclusion, private mtDNA mutations are frequent, but they are rarely, if ever, associated with HCM.

PubMed Disclaimer

Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Fig 1
Fig 1. The algorithm used to select for potentially pathogenic mtDNA variants.
See this image and copyright information in PMC

References

    1. Maron BJ, Maron MS. Hypertrophic cardiomyopathy. Lancet 2013; 381: 242–255. 10.1016/S0140-6736(12)60397-3 - DOI - PubMed
    1. Towbin JA. Hypertrophic cardiomyopathy. Pacing ClinElectrophysiol. 2009; 32 Suppl 2: S23–S31. 10.1111/j.1540-8159.2009.02381.x - DOI - PubMed
    1. Andersen PS, Hedley PL, Page SP, Syrris P, Moolman-Smook JC, McKenna WJ, et al. A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity. Biochem Res Int. 2012: 685108. - PMC - PubMed
    1. Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation 2006; 113: 1807–1816. - PubMed
    1. Teekakirikul P, Kelly MA, Rehm HL, Lakdawala NK, Funke BH. Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. J Mol Diagn. 2013; 15: 158–170. 10.1016/j.jmoldx.2012.09.002 - DOI - PubMed

Publication types

Substances

LinkOut - more resources