Understanding the Genetic and Molecular Basis of Familial Hypertrophic Cardiomyopathy and the Current Trends in Gene Therapy for Its Management.
cardiology
epigenetics
gene therapy
genetics
hypertrophic cardiomyopathy
pathophysiology
signal transduction
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Aug 2021
Aug 2021
Historique:
received:
26
07
2021
accepted:
28
08
2021
entrez:
14
10
2021
pubmed:
15
10
2021
medline:
15
10
2021
Statut:
epublish
Résumé
Hypertrophic cardiomyopathy (HCM) is a genetically acquired disease of cardiac myocytes. Studies show that 70% of this disease is a result of different mutations in various sarcomere genes. This review aims to discuss several genetic mutations, epigenetic factors, and signal transduction pathways leading to the development of HCM. In addition, this article elaborates on recent advances in gene therapies and their implications for managing this condition. We start by discussing the founding mutations in HCM and their effect on power stroke generation. The less explored field of epigenetics including methylation, acetylation, and the role of different micro RNAs in the development of cardiac muscle hypertrophy has been highlighted in this article. The signal transduction pathways that lead to gene transcription, which in turn lead to increased protein synthesis of cardiac muscle fibers are elaborated. Finally, the microscopic events leading to the pathophysiologic macro events of cardiac failure, and the current experimental trials of gene therapy models, and the clustered regularly interspaced short palindromic repeats (CRISPR) type 2 system proteins, are discussed. We have concluded our discussion by emphasizing the need for more studies on epigenomics and experimental designs for gene therapy in HCM patients. This review focuses on the process of HCM from initial mutation to the development of phenotypic expression and various points of intervention in cardiac myocardial hypertrophy development.
Identifiants
pubmed: 34646605
doi: 10.7759/cureus.17548
pmc: PMC8481153
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
e17548Informations de copyright
Copyright © 2021, Pradeep et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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