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Genetics, Genomics and Molecular Pathogenesis of Myocardial Diseases
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Genetics, Genomics and Molecular Pathogenesis of Myocardial Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (15 January 2024) | Viewed by 3655

Special Issue Editor

Prof. Dr. Raffaella Lombardi

E-Mail Website
Guest Editor
Department of Advanced Biomedical Sciences, Federico II University of Naples, 80131 Naples, Italy
Interests: hereditary cardiomyopathies; induced pluripotent stem cells; molecular biology; genetics and genomics; biomarkers
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Myocardial Diseases, also known as Cardiomyopathies, include a vast group of disorders in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.

According with the European Society of Cardiology, these diseases are classified into specific morphological and functional phenotypes: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), arrhythmogenic cardiomyopathy (ACM), and restrictive cardiomyopathy (RCM). Each phenotype is sub-classified into familial forms, which are genetically determined, and non-familial forms, which include idiopathic (no identifiable cause) and acquired myocardial diseases.

Although several molecular pathways involved in the pathogenesis of genetic cardiomyopathies have been identified, more studies are necessary as a resolutive therapy is still lacking. Furthermore, the causal genes and/or genetic predisposition and the molecular pathogenesis of many rare myocardial diseases remain unknown. The aim of this Special Issue is to provide a venue for emerging research in the area of myocardial diseases, including technological advances in the field of genetics and genomics and novel molecular and cellular mechanisms. 

Prof. Dr. Raffaella Lombardi
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • hereditary cardiomyopathies
  • amyloidosis
  • metabolic cardiomyopathy
  • storage diseases
  • peripartum cardiomyopathy
  • cardiotoxicity
  • takotsubo cardiomyopathy
  • genetic variants
  • RNA sequencing
  • cardiac molecular
  • cellular biology

Published Papers (2 papers)

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Research

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17 pages, 4338 KiB  
Article
Omics Analyses of Stromal Cells from ACM Patients Reveal Alterations in Chromatin Organization and Mitochondrial Homeostasis
by Melania Lippi, Angela Serena Maione, Mattia Chiesa, Gianluca Lorenzo Perrucci, Lara Iengo, Tommaso Sattin, Chiara Cencioni, Matteo Savoia, Andreas M. Zeiher, Fabrizio Tundo, Claudio Tondo, Giulio Pompilio and Elena Sommariva
Int. J. Mol. Sci. 2023, 24(12), 10017; https://doi.org/10.3390/ijms241210017 - 12 Jun 2023
Cited by 1 | Viewed by 1319
Abstract
Arrhythmogenic cardiomyopathy (ACM) is a genetic disorder characterized by ventricular arrhythmias, contractile dysfunctions and fibro-adipose replacement of myocardium. Cardiac mesenchymal stromal cells (CMSCs) participate in disease pathogenesis by differentiating towards adipocytes and myofibroblasts. Some altered pathways in ACM are known, but many are [...] Read more.
Arrhythmogenic cardiomyopathy (ACM) is a genetic disorder characterized by ventricular arrhythmias, contractile dysfunctions and fibro-adipose replacement of myocardium. Cardiac mesenchymal stromal cells (CMSCs) participate in disease pathogenesis by differentiating towards adipocytes and myofibroblasts. Some altered pathways in ACM are known, but many are yet to be discovered. We aimed to enrich the understanding of ACM pathogenesis by comparing epigenetic and gene expression profiles of ACM-CMSCs with healthy control (HC)-CMSCs. Methylome analysis identified 74 differentially methylated nucleotides, most of them located on the mitochondrial genome. Transcriptome analysis revealed 327 genes that were more expressed and 202 genes that were less expressed in ACM- vs. HC-CMSCs. Among these, genes implicated in mitochondrial respiration and in epithelial-to-mesenchymal transition were more expressed, and cell cycle genes were less expressed in ACM- vs. HC-CMSCs. Through enrichment and gene network analyses, we identified differentially regulated pathways, some of which never associated with ACM, including mitochondrial functioning and chromatin organization, both in line with methylome results. Functional validations confirmed that ACM-CMSCs exhibited higher amounts of active mitochondria and ROS production, a lower proliferation rate and a more pronounced epicardial-to-mesenchymal transition compared to the controls. In conclusion, ACM-CMSC-omics revealed some additional altered molecular pathways, relevant in disease pathogenesis, which may constitute novel targets for specific therapies. Full article
(This article belongs to the Special Issue Genetics, Genomics and Molecular Pathogenesis of Myocardial Diseases)
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Review

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27 pages, 457 KiB  
Review
Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement
by Anna Burban, Szymon Pucyło, Aleksandra Sikora, Grzegorz Opolski, Marcin Grabowski and Agnieszka Kołodzińska
Int. J. Mol. Sci. 2023, 24(17), 13239; https://doi.org/10.3390/ijms241713239 - 26 Aug 2023
Cited by 1 | Viewed by 1851
Abstract
One of the main causes of heart failure is cardiomyopathies. Among them, the most common is hypertrophic cardiomyopathy (HCM), characterized by thickening of the left ventricular muscle. This article focuses on HCM and other cardiomyopathies with myocardial hypertrophy, including Fabry disease, Pompe disease, [...] Read more.
One of the main causes of heart failure is cardiomyopathies. Among them, the most common is hypertrophic cardiomyopathy (HCM), characterized by thickening of the left ventricular muscle. This article focuses on HCM and other cardiomyopathies with myocardial hypertrophy, including Fabry disease, Pompe disease, and Danon disease. The genetics and pathogenesis of these diseases are described, as well as current and experimental treatment options, such as pharmacological intervention and the potential of gene therapies. Although genetic approaches are promising and have the potential to become the best treatments for these diseases, further research is needed to evaluate their efficacy and safety. This article describes current knowledge and advances in the treatment of the aforementioned cardiomyopathies. Full article
(This article belongs to the Special Issue Genetics, Genomics and Molecular Pathogenesis of Myocardial Diseases)
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