Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy

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Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy. / Hagen, Christian M; Aidt, Frederik H; Havndrup, Ole; Hedley, Paula L; Jensen, Morten K; Kanters, Jørgen K; Pham, Tam T; Bundgaard, Henning; Christiansen, Michael.

In: PLOS ONE, Vol. 10, No. 4, e0124540, 2015, p. 1-15.

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Hagen, CM, Aidt, FH, Havndrup, O, Hedley, PL, Jensen, MK, Kanters, JK, Pham, TT, Bundgaard, H & Christiansen, M 2015, 'Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy', PLOS ONE, vol. 10, no. 4, e0124540, pp. 1-15. https://doi.org/10.1371/journal.pone.0124540

APA

Hagen, C. M., Aidt, F. H., Havndrup, O., Hedley, P. L., Jensen, M. K., Kanters, J. K., ... Christiansen, M. (2015). Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy. PLOS ONE, 10(4), 1-15. [e0124540]. https://doi.org/10.1371/journal.pone.0124540

Vancouver

Hagen CM, Aidt FH, Havndrup O, Hedley PL, Jensen MK, Kanters JK et al. Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy. PLOS ONE. 2015;10(4):1-15. e0124540. https://doi.org/10.1371/journal.pone.0124540

Author

Hagen, Christian M ; Aidt, Frederik H ; Havndrup, Ole ; Hedley, Paula L ; Jensen, Morten K ; Kanters, Jørgen K ; Pham, Tam T ; Bundgaard, Henning ; Christiansen, Michael. / Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy. In: PLOS ONE. 2015 ; Vol. 10, No. 4. pp. 1-15.

Bibtex

@article{4428507b8dcf4ae8ad360ac6f80e1c5e,
title = "Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy",
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.",
author = "Hagen, {Christian M} and Aidt, {Frederik H} and Ole Havndrup and Hedley, {Paula L} and Jensen, {Morten K} and Kanters, {J{\o}rgen K} and Pham, {Tam T} and Henning Bundgaard and Michael Christiansen",
year = "2015",
doi = "10.1371/journal.pone.0124540",
language = "English",
volume = "10",
pages = "1--15",
journal = "P L o S One",
issn = "1932-6203",
publisher = "Public Library of Science",
number = "4",

}

RIS

TY - JOUR

T1 - Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy

AU - Hagen, Christian M

AU - Aidt, Frederik H

AU - Havndrup, Ole

AU - Hedley, Paula L

AU - Jensen, Morten K

AU - Kanters, Jørgen K

AU - Pham, Tam T

AU - Bundgaard, Henning

AU - Christiansen, Michael

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

U2 - 10.1371/journal.pone.0124540

DO - 10.1371/journal.pone.0124540

M3 - Journal article

VL - 10

SP - 1

EP - 15

JO - P L o S One

JF - P L o S One

SN - 1932-6203

IS - 4

M1 - e0124540

ER -

ID: 140432804