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Cardiogenetics
Volume 2
Issue 1
10.4081/cardiogenetics.2012.e5
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Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Article

Transcriptional Regulation of Cardiac Genes Balance Pro- and Anti-Hypertrophic Mechanisms in Hypertrophic Cardiomyopathy

by
Nina Gennebäck
1,*,
Gerhard Wikström
2,
Urban Hellman
1,
Jane-Lise Samuel
3,
Anders Waldenström
4 and
Stellan Mörner
4
1
Department of Public Health and Clinical Medicine/Medicine, Umea University, Umea
2
Department of Medical Sciences, Cardiology, Uppsala University, Uppsala
3
INSERM U 942, 41, Bd de la Chapelle, Paris, France, Hôpital Lariboisière Paris France
4
Department of Cardiology, Heart Centre, Umeå University Hospital and Department of Public Health and Clinical Medicine, Umeå University, Umeå
*
Author to whom correspondence should be addressed.
Cardiogenetics 2012, 2(1), e5; https://doi.org/10.4081/cardiogenetics.2012.e5
Submission received: 10 November 2011 / Revised: 25 April 2012 / Accepted: 27 April 2012 / Published: 22 June 2012

Abstract

Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left ventricular hypertrophy. HCM is often hereditary, but our knowledge of the mechanisms leading from mutation to phenotype is incomplete. The transcriptional expression patterns in the myocar - dium of HCM patients may contribute to understanding the mechanisms that drive and stabilize the hypertrophy. Cardiac myectomies/biopsies from 8 patients with hypertrophic obstructive cardiomyopathy (HOCM) and 5 controls were studied with whole genome Illumina microarray gene expression (detecting 18 189 mRNA). When comparing HOCM myocardium to controls, there was significant transcriptional down-regulation of the MYH6, EGR1, APOB and FOS genes, and significant transcriptional up-regulation of the ACE2, JAK2, NPPA (ANP), APOA1 and HDAC5 genes. The transcriptional regulation revealed both pro- and anti-hypertrophic mechanisms. The pro-hypertrophic response was explained by the transcriptional down-regulation of MYH6, indicating that the switch to the fetal gene program is maintained, and the transcriptional up-regulation of JAK2 in the JAK-STAT pathway. The anti-hypertrophic response was seen as a transcriptional down-regulation of the immediate early genes (IEGs), FOS and EGR1, and a transcriptional up-regulation of ACE2 and HDAC5. This can be interpreted as a transcriptional endogenous protection system in the heart of the HOCM patients, neither growing nor suppressing the already hypertrophic myocardium.
Keywords: hypertrophic cardiomyopathy; HCM; gene expression; microarray hypertrophic cardiomyopathy; HCM; gene expression; microarray

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MDPI and ACS Style

Gennebäck, N.; Wikström, G.; Hellman, U.; Samuel, J.-L.; Waldenström, A.; Mörner, S. Transcriptional Regulation of Cardiac Genes Balance Pro- and Anti-Hypertrophic Mechanisms in Hypertrophic Cardiomyopathy. Cardiogenetics 2012, 2, e5. https://doi.org/10.4081/cardiogenetics.2012.e5

AMA Style

Gennebäck N, Wikström G, Hellman U, Samuel J-L, Waldenström A, Mörner S. Transcriptional Regulation of Cardiac Genes Balance Pro- and Anti-Hypertrophic Mechanisms in Hypertrophic Cardiomyopathy. Cardiogenetics. 2012; 2(1):e5. https://doi.org/10.4081/cardiogenetics.2012.e5

Chicago/Turabian Style

Gennebäck, Nina, Gerhard Wikström, Urban Hellman, Jane-Lise Samuel, Anders Waldenström, and Stellan Mörner. 2012. "Transcriptional Regulation of Cardiac Genes Balance Pro- and Anti-Hypertrophic Mechanisms in Hypertrophic Cardiomyopathy" Cardiogenetics 2, no. 1: e5. https://doi.org/10.4081/cardiogenetics.2012.e5

APA Style

Gennebäck, N., Wikström, G., Hellman, U., Samuel, J. -L., Waldenström, A., & Mörner, S. (2012). Transcriptional Regulation of Cardiac Genes Balance Pro- and Anti-Hypertrophic Mechanisms in Hypertrophic Cardiomyopathy. Cardiogenetics, 2(1), e5. https://doi.org/10.4081/cardiogenetics.2012.e5

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