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

Overview

Journal Front Cardiovasc Med

Specialty Cardiology & Vascular Diseases

Date 2018 Jul 13

PMID 29998127

Citations 11

Authors

Oday F Salman

Hebah M El-Rayess

Charbel Abi Khalil

Georges Nemer

Marwan M Refaat

Affiliations

Soon will be listed here.

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.

Citing Articles

Recent Clinical Updates of Hypertrophic Cardiomyopathy and Future Therapeutic Strategies.

Zhao M, He X, Min X, Yang H, Wu W, Zhong J Rev Cardiovasc Med. 2025; 26(2):25132.

PMID: 40026515 PMC: 11868910. DOI: 10.31083/RCM25132.

Technologies for Targeted RNA Degradation and Induced RNA Decay.

Mikutis S, Bernardes G Chem Rev. 2024; 124(23):13301-13330.

PMID: 39499674 PMC: 11638902. DOI: 10.1021/acs.chemrev.4c00472.

Cardiomyopathy: pathogenesis and therapeutic interventions.

Huang S, Li J, Li Q, Wang Q, Zhou X, Chen J MedComm (2020). 2024; 5(11):e772.

PMID: 39465141 PMC: 11502724. DOI: 10.1002/mco2.772.

The role of noncoding genetic variants in cardiomyopathy.

Htet M, Lei S, Bajpayi S, Zoitou A, Chamakioti M, Tampakakis E Front Cardiovasc Med. 2023; 10:1116925.

PMID: 37283586 PMC: 10239966. DOI: 10.3389/fcvm.2023.1116925.

Role of non-coding variants in cardiovascular disease.

Heshmatzad K, Naderi N, Maleki M, Abbasi S, Ghasemi S, Ashrafi N J Cell Mol Med. 2023; 27(12):1621-1636.

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