Format

Send to

Choose Destination
PLoS One. 2015 Aug 12;10(8):e0134184. doi: 10.1371/journal.pone.0134184. eCollection 2015.

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

Author information

1
Hormone laboratory, Aker hospital, Oslo University Hospital, Oslo, Norway; Division of Women and Children's Health, Department of Pediatric Research, Oslo University Hospital, Oslo, Norway.
2
Helsinki University Central Hospital, Department of Cardiology, Helsinki, Finland.
3
Kuopio University Hospital, Heart Center, Kuopio, Finland.
4
VTT Technical Research Centre of Finland, Espoo, Finland.
5
University of Eastern Finland and Kuopio University Hospital, Department of Medicine, Kuopio, Finland.
6
Steno Diabetes Center, 2820 Gentofte, Denmark; VTT Technical Research Centre of Finland, Espoo, Finland.

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 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.

PMID:
26267065
PMCID:
PMC4534205
DOI:
10.1371/journal.pone.0134184
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Public Library of Science Icon for PubMed Central
Loading ...
Support Center