The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy

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Jorgenrud , B , Jalanko , M , Helio , T , Jaaskelainen , P , Laine , M , Hilvo , M , Nieminen , M S , Laakso , M , Hyotylainen , T , Oresic , M & Kuusisto , J 2015 , ' The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy ' PLoS One , vol. 10 , no. 8 , 0134184 . DOI: 10.1371/journal.pone.0134184

Title: The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy
Author: Jorgenrud, Benedicte; Jalanko, Mikko; Helio, Tiina; Jaaskelainen, Pertti; Laine, Mika; Hilvo, Mika; Nieminen, Markku S.; Laakso, Markku; Hyotylainen, Tuulia; Oresic, Matej; Kuusisto, Johanna
Contributor: University of Helsinki, Department of Medicine
University of Helsinki, Kardiologian yksikkö
University of Helsinki, Department of Medicine
Date: 2015-08-12
Language: eng
Number of pages: 15
Belongs to series: PLoS One
ISSN: 1932-6203
URI: http://hdl.handle.net/10138/166059
Abstract: 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 meta-bolome 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.
Subject: BINDING PROTEIN-C
LEFT-VENTRICULAR HYPERTROPHY
AMINO-ACID-METABOLISM
MASS-SPECTROMETRY
DILATED CARDIOMYOPATHY
FOUNDER MUTATIONS
ALPHA-TROPOMYOSIN
EASTERN FINLAND
GENE
HEART
3121 Internal medicine
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