Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome

Oday F. Salman; Hebah M. El-Rayess; Charbel Abi Khalil; Georges Nemer; Marwan M. Refaat

doi:10.3389/fcvm.2018.00077

Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome

Oday F. Salman, Hebah M. El-Rayess, Charbel Abi Khalil, Georges Nemer, Marwan M. Refaat^*

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

16 Citations (Scopus)

Abstract

Cardiomyopathies (CMs) are a group of cardiac pathologies caused by an intrinsic defect within the myocardium. The relative contribution of genetic mutations in the pathogenesis of certain CMs, such as hypertrophic cardiomyopathy (HCM), arrythmogenic right/left ventricular cardiomyopathy (ARVC) and left ventricular non-compacted cardiomyopathy (LVNC) has been established in comparison to dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM). The aim of this article is to review mutations in the non-coding parts of the genome, namely, microRNA, promoter elements, enhancer/silencer elements, 3′/5′UTRs and introns, that are involved in the pathogenesis CMs. Additionally, we will explore the role of some long non-coding RNAs in the pathogenesis of CMs.

Original language	English
Article number	77
Journal	Frontiers in Cardiovascular Medicine
Volume	5
DOIs	https://doi.org/10.3389/fcvm.2018.00077
Publication status	Published - 26 Jun 2018
Externally published	Yes

Keywords

arrythmogenic cardiomyopathy
cardiomyopathy
dilated cardiomyopathy
hypertrophic cardiomyopathy
mutations
non-coding genome
restrictive cardiomyopathy
spongiform cardiomyopathy

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10.3389/fcvm.2018.00077

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title = "Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome",

abstract = "Cardiomyopathies (CMs) are a group of cardiac pathologies caused by an intrinsic defect within the myocardium. The relative contribution of genetic mutations in the pathogenesis of certain CMs, such as hypertrophic cardiomyopathy (HCM), arrythmogenic right/left ventricular cardiomyopathy (ARVC) and left ventricular non-compacted cardiomyopathy (LVNC) has been established in comparison to dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM). The aim of this article is to review mutations in the non-coding parts of the genome, namely, microRNA, promoter elements, enhancer/silencer elements, 3′/5′UTRs and introns, that are involved in the pathogenesis CMs. Additionally, we will explore the role of some long non-coding RNAs in the pathogenesis of CMs.",

keywords = "arrythmogenic cardiomyopathy, cardiomyopathy, dilated cardiomyopathy, hypertrophic cardiomyopathy, mutations, non-coding genome, restrictive cardiomyopathy, spongiform cardiomyopathy",

author = "Salman, {Oday F.} and El-Rayess, {Hebah M.} and {Abi Khalil}, Charbel and Georges Nemer and Refaat, {Marwan M.}",

note = "Publisher Copyright: {\textcopyright} Copyright {\textcopyright} 2018 Salman, El-Rayess, Abi Khalil, Nemer and Refaat.",

year = "2018",

month = jun,

day = "26",

doi = "10.3389/fcvm.2018.00077",

language = "English",

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journal = "Frontiers in Cardiovascular Medicine",

issn = "2297-055X",

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TY - JOUR

T1 - Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome

AU - Salman, Oday F.

AU - El-Rayess, Hebah M.

AU - Abi Khalil, Charbel

AU - Nemer, Georges

AU - Refaat, Marwan M.

PY - 2018/6/26

Y1 - 2018/6/26

N2 - Cardiomyopathies (CMs) are a group of cardiac pathologies caused by an intrinsic defect within the myocardium. The relative contribution of genetic mutations in the pathogenesis of certain CMs, such as hypertrophic cardiomyopathy (HCM), arrythmogenic right/left ventricular cardiomyopathy (ARVC) and left ventricular non-compacted cardiomyopathy (LVNC) has been established in comparison to dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM). The aim of this article is to review mutations in the non-coding parts of the genome, namely, microRNA, promoter elements, enhancer/silencer elements, 3′/5′UTRs and introns, that are involved in the pathogenesis CMs. Additionally, we will explore the role of some long non-coding RNAs in the pathogenesis of CMs.

AB - Cardiomyopathies (CMs) are a group of cardiac pathologies caused by an intrinsic defect within the myocardium. The relative contribution of genetic mutations in the pathogenesis of certain CMs, such as hypertrophic cardiomyopathy (HCM), arrythmogenic right/left ventricular cardiomyopathy (ARVC) and left ventricular non-compacted cardiomyopathy (LVNC) has been established in comparison to dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM). The aim of this article is to review mutations in the non-coding parts of the genome, namely, microRNA, promoter elements, enhancer/silencer elements, 3′/5′UTRs and introns, that are involved in the pathogenesis CMs. Additionally, we will explore the role of some long non-coding RNAs in the pathogenesis of CMs.

KW - arrythmogenic cardiomyopathy

KW - cardiomyopathy

KW - dilated cardiomyopathy

KW - hypertrophic cardiomyopathy

KW - mutations

KW - non-coding genome

KW - restrictive cardiomyopathy

KW - spongiform cardiomyopathy

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U2 - 10.3389/fcvm.2018.00077

DO - 10.3389/fcvm.2018.00077

M3 - Review article

AN - SCOPUS:85068371931

SN - 2297-055X

VL - 5

JO - Frontiers in Cardiovascular Medicine

JF - Frontiers in Cardiovascular Medicine

M1 - 77

ER -

Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome

Abstract

Keywords

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