oru.sePublikasjoner
Endre søk
RefereraExporteraLink to record
Permanent link

Direct link
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annet format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annet språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf
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.
Helsinki University Central Hospital, Department of Cardiology, Helsinki, Finland.
Department of Cardiology, Helsinki University Central Hospital, Helsinki, Finland.
Heart Center, Kuopio University Hospital, Kuopio, Finland.
Vise andre og tillknytning
2015 (engelsk)Inngår i: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 10, nr 8, artikkel-id e0134184Artikkel i tidsskrift (Fagfellevurdert) 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.

sted, utgiver, år, opplag, sider
PLOS One , 2015. Vol. 10, nr 8, artikkel-id e0134184
HSV kategori
Identifikatorer
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
Forskningsfinansiär
Academy of Finland, 114396/2006
Merknad

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

Tilgjengelig fra: 2017-12-22 Laget: 2017-12-22 Sist oppdatert: 2018-07-09bibliografisk kontrollert

Open Access i DiVA

Fulltekst mangler i DiVA

Andre lenker

Forlagets fulltekstPubMedScopus

Personposter BETA

Hyötyläinen, TuuliaOresic, Matej

Søk i DiVA

Av forfatter/redaktør
Hyötyläinen, TuuliaOresic, Matej
Av organisasjonen
I samme tidsskrift
PLoS ONE

Søk utenfor DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric

doi
pubmed
urn-nbn
Totalt: 31 treff
RefereraExporteraLink to record
Permanent link

Direct link
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annet format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annet språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf