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The Metabolome in F...
The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy
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- Jørgenrud, Benedicte (author)
- 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
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- Jalanko, Mikko (author)
- Department of Cardiology, Helsinki University Central Hospital, Helsinki, Finland
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- Heliö, Tiina (author)
- Department of Cardiology, Helsinki University Central Hospital, Helsinki, Finland
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- Jääskeläinen, Pertti (author)
- Heart Center, Kuopio University Hospital, Kuopio, Finland
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- Laine, Mika (author)
- Department of Cardiology, Helsinki University Central Hospital, Helsinki, Finland
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- Hilvo, Mika (author)
- VTT Technical Research Centre of Finland, Espoo, Finland
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- Nieminen, Markku S (author)
- Department of Cardiology, Helsinki University Central Hospital, Helsinki, Finland
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- Laakso, Markku (author)
- Department of Medicine, Kuopio University Hospital, University of Eastern Finland, Kuopio, Finland
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- Hyötyläinen, Tuulia, 1971- (author)
- Örebro universitet,Institutionen för naturvetenskap och teknik,Steno Diabetes Center, Gentofte, Denmark; VTT Technical Research Centre of Finland, Espoo, Finland
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- Oresic, Matej, 1967- (author)
- Örebro universitet,Institutionen för medicinska vetenskaper,Steno Diabetes Center, Gentofte, Denmark; VTT Technical Research Centre of Finland, Espoo, Finland
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- Kuusisto, Johanna (author)
- University of Eastern Finland, Kuopio, Finland; Department of Medicine, Kuopio University Hospital, Kuopio, Finland
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(creator_code:org_t)
- 2015-08-12
- 2015
- English.
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In: PLOS ONE. - : PLOS One. - 1932-6203. ; 10:8
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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- art (subject category)
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- By the author/editor
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Jørgenrud, Bened ...
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Jalanko, Mikko
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Heliö, Tiina
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Jääskeläinen, Pe ...
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Laine, Mika
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Hilvo, Mika
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Nieminen, Markku ...
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Laakso, Markku
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Hyötyläinen, Tuu ...
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Oresic, Matej, 1 ...
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Kuusisto, Johann ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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PLOS ONE
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Örebro University