Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome
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Frontiers Media S.A.
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. © Copyright © 2018 Salman, El-Rayess, Abi Khalil, Nemer and Refaat.
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Keywords
Arrythmogenic cardiomyopathy, Cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mutations, Non-coding genome, Restrictive cardiomyopathy, Spongiform cardiomyopathy, Connexin 43, Dystrophin, Frataxin, Homeobox protein nkx-2.5, Immunoglobulin enhancer binding protein, Long untranslated rna, Messenger rna, Microrna, Microrna 181 a2, Microrna 184, Microrna 204, Microrna 222, Microrna 383, Microrna 497, Microrna 96, Monocyte chemotactic protein 1, Myosin binding protein c, Myosin binding protein c3, Neurite promoting factor, Plakophilin, Plakophilin 2, Rna helicase, Transcription factor gata, Transforming growth factor beta, Unclassified drug, 3' untranslated region, 5' untranslated region, Becker muscular dystrophy, Chagas cardiomyopathy, Chagas disease, Congestive cardiomyopathy, Dna polymorphism, Doppler ultrasonography, Down regulation, Electrocardiography, Emery dreifuss muscular dystrophy, Gene deletion, Gene expression, Gene mutation, Genetic disorder, Genetic transcription, Genome, Genotype, Heart infarction, Heart left ventricle ejection fraction, Human, Immune response, Immunofluorescence test, Intron, Left ventricular fractional shortening, Leukocyte, Luciferase assay, Lung adenocarcinoma, Metastasis, Muscle biopsy, Myotonic dystrophy, Neurite outgrowth, Nuclear magnetic resonance imaging, Pathogenesis, Phenotype, Polyacrylamide gel electrophoresis, Protein phosphorylation, Reverse transcription polymerase chain reaction, Review, Risk factor, Rna splicing, Skeletal muscle, Upregulation, X chromosome