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.
N1 - Publisher Copyright:
© Copyright © 2018 Salman, El-Rayess, Abi Khalil, Nemer and Refaat.
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
UR - http://www.scopus.com/inward/record.url?scp=85068371931&partnerID=8YFLogxK
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 -