Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Dancing with atrial fibrillation - How arrhythmia affects everyday life of family members: A qualitative study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Insulin resistance genetic risk score and burden of coronary artery disease in patients referred for coronary angiography

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Risk Factors for Being Seronegative following SARS-CoV-2 Infection in a Large Cohort of Health Care Workers in Denmark

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Functional Effects of Receptor-Binding Domain Mutations of SARS-CoV-2 B.1.351 and P.1 Variants

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Long-term prognosis following hospitalization for acute myocarditis - a matched nationwide cohort study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftP L o S One
Vol/bind10
Udgave nummer4
Sider (fra-til)e0124540
ISSN1932-6203
DOI
StatusUdgivet - 2015

ID: 46172633