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The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy
Hormone Laboratory, Oslo University Hospital, Oslo, Norway; Hormone Laboratory, Aker Hospital, Oslo, Norway; Division of Women and Children's Health, Department of Pediatric Research, Oslo University Hospital, Oslo, Norway.
Department of Cardiology, Helsinki University Central Hospital, Helsinki, Finland.
Department of Cardiology, Helsinki University Central Hospital, Helsinki, Finland.
Heart Center, Kuopio University Hospital, Kuopio, Finland.
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2015 (English)In: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 10, no 8, article id e0134184Article in journal (Refereed) Published
Abstract [en]

AIMS: Mutations in the cardiac myosin-binding protein C gene (MYBPC3) are the most common genetic cause of hypertrophic cardiomyopathy (HCM) worldwide. The molecular mechanisms leading to HCM are poorly understood. We investigated the metabolic profiles of mutation carriers with the HCM-causing MYBPC3-Q1061X mutation with and without left ventricular hypertrophy (LVH) and non-affected relatives, and the association of the metabolome to the echocardiographic parameters.

METHODS AND RESULTS: 34 hypertrophic subjects carrying the MYBPC3-Q1061X mutation, 19 non-hypertrophic mutation carriers and 20 relatives with neither mutation nor hypertrophy were examined using comprehensive echocardiography. Plasma was analyzed for molecular lipids and polar metabolites using two metabolomics platforms. Concentrations of branched chain amino acids, triglycerides and ether phospholipids were increased in mutation carriers with hypertrophy as compared to controls and non-hypertrophic mutation carriers, and correlated with echocardiographic LVH and signs of diastolic and systolic dysfunction in subjects with the MYBPC3-Q1061X mutation.

CONCLUSIONS: Our study implicates the potential role of branched chain amino acids, triglycerides and ether phospholipids in HCM, as well as suggests an association of these metabolites with remodeling and dysfunction of the left ventricle.

Place, publisher, year, edition, pages
PLOS One , 2015. Vol. 10, no 8, article id e0134184
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:oru:diva-63707DOI: 10.1371/journal.pone.0134184ISI: 000359492300036PubMedID: 26267065Scopus ID: 2-s2.0-84942890982OAI: oai:DiVA.org:oru-63707DiVA, id: diva2:1169272
Funder
Academy of Finland, 114396/2006
Note

Funding agencies:

Finnish Foundation of Cardiovascular Research

University Hospital of Kuopio 5101048/2009, 5101056/2012

Finnish Medical Foundation

University Hospital of Helsinki TYH2012120, TYH2014208

Aarne Koskelo Foundation

Research Council of Norway 214191

Available from: 2017-12-22 Created: 2017-12-22 Last updated: 2018-09-16Bibliographically approved

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Hyötyläinen, TuuliaOresic, Matej

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