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Cardiomyopathy: From Pathologies to Therapy
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Cardiomyopathy: From Pathologies to Therapy

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 (20 November 2024) | Viewed by 3620

Special Issue Editor

Dr. Zuzana Nichtová

E-Mail Website
Guest Editor
Head of Cardiovascular Unit - Czech Center for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences - BIOCEV Centre, Průmyslová 595, 252 50 Vestec, Czech Republic
Interests: cardiovascular research; rare diseases; mitochondria; calcium signaling

Special Issue Information

Dear Colleagues,

We are delighted to invite you to contribute to a Special Issue on Cardiomyopathy: From Pathologies to Therapy in the International Journal of Molecular Sciences.

The objective of this Special Issue is to compile new, unique, and valuable information about cardiomyopathies from both pathological and therapeutic standpoints. Cardiomyopathy studies are critical for unraveling its underlying causes, mechanisms, molecular pathways, cellular mechanisms, and progression. Pathological investigations provide valuable insights into the structural and molecular changes that occur within the heart. This knowledge aids researchers and clinicians in improving the early detection and accurate diagnosis of the condition, even before symptoms manifest. It also helps identify specific subtypes, predict disease progression, and develop targeted therapeutic strategies tailored to the specific subtype and underlying cause of the disease. These studies may contribute to the development of drugs that can prevent or reverse pathological processes, gene therapies that correct genetic abnormalities, and regenerative medicine approaches that restore damaged heart tissue. Cardiomyopathy studies play a crucial role in patient education and support. By raising awareness about the condition, its causes, and available treatment options, patients can actively participate in their own care. Moreover, research helps create educational resources and support networks for patients and their families, fostering a better understanding of the disease, its management, and the necessary lifestyle modifications for individuals with cardiomyopathy.

I look forward to receiving your contribution.

Dr. Zuzana Nichtová
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.

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Published Papers (2 papers)

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Research

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13 pages, 1531 KiB  
Article
Flagellin-Induced Immune Response in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes
by Goekhan Yuecel, Xiaobo Zhou, Linda Terkatz, Angela Wendel, Julius Reinhardt, Ibrahim El-Battrawy, Katherine Sattler, Lukas Cyganek, Jochen Utikal, Harald Langer, Ruediger Scharf, Daniel Duerschmied and Ibrahim Akin
Int. J. Mol. Sci. 2023, 24(18), 13933; https://doi.org/10.3390/ijms241813933 - 11 Sep 2023
Cited by 1 | Viewed by 1550
Abstract
Pathogen-associated molecular patterns (PAMPs) are involved in the pathogenesis of septic cardiomyopathy through a toll-like receptor (TLR)-mediated immune response. Human-induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) can reflect the innate immune abilities of cardiomyocytes. Therefore, hiPSC-CMs may provide an attractive tool with which to [...] Read more.
Pathogen-associated molecular patterns (PAMPs) are involved in the pathogenesis of septic cardiomyopathy through a toll-like receptor (TLR)-mediated immune response. Human-induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) can reflect the innate immune abilities of cardiomyocytes. Therefore, hiPSC-CMs may provide an attractive tool with which to study PAMP-induced alterations in cardiomyocytes. HiPSC-CMs from two different healthy donors were exposed to the PAMP flagellin (FLA) at different doses and exposure times. Alterations in the expression levels of distinct inflammation-associated cytokines, intracellular inflammation pathways including TLR5 downstream signaling, reactive oxygen species levels and surface antigen composition were assessed using PCR, ELISA and FACS techniques. Higher doses of flagellin increased the expression levels of inflammation-associated cytokines like TNFα (p < 0.01) and downstream signaling molecules like caspase-8 (p < 0.05). TLR5 expression (p < 0.01) and TLR5 fluorescence proportion (p < 0.05) increased in hiPSC-CMs after prolonged FLA exposure. FLA-induced innate immune response processes in cardiomyocytes might be detectable with an hiPSC-CMs-based in vitro model. Full article
(This article belongs to the Special Issue Cardiomyopathy: From Pathologies to Therapy)
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Review

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22 pages, 823 KiB  
Review
Animal Models and Molecular Pathogenesis of Arrhythmogenic Cardiomyopathy Associated with Pathogenic Variants in Intercalated Disc Genes
by Sara Vencato, Chiara Romanato, Alessandra Rampazzo and Martina Calore
Int. J. Mol. Sci. 2024, 25(11), 6208; https://doi.org/10.3390/ijms25116208 - 5 Jun 2024
Viewed by 1444
Abstract
Arrhythmogenic cardiomyopathy (ACM) is a rare genetic cardiac disease characterized by the progressive substitution of myocardium with fibro-fatty tissue. Clinically, ACM shows wide variability among patients; symptoms can include syncope and ventricular tachycardia but also sudden death, with the latter often being its [...] Read more.
Arrhythmogenic cardiomyopathy (ACM) is a rare genetic cardiac disease characterized by the progressive substitution of myocardium with fibro-fatty tissue. Clinically, ACM shows wide variability among patients; symptoms can include syncope and ventricular tachycardia but also sudden death, with the latter often being its sole manifestation. Approximately half of ACM patients have been found with variations in one or more genes encoding cardiac intercalated discs proteins; the most involved genes are plakophilin 2 (PKP2), desmoglein 2 (DSG2), and desmoplakin (DSP). Cardiac intercalated discs provide mechanical and electro-metabolic coupling among cardiomyocytes. Mechanical communication is guaranteed by the interaction of proteins of desmosomes and adheren junctions in the so-called area composita, whereas electro-metabolic coupling between adjacent cardiac cells depends on gap junctions. Although ACM has been first described almost thirty years ago, the pathogenic mechanism(s) leading to its development are still only partially known. Several studies with different animal models point to the involvement of the Wnt/β-catenin signaling in combination with the Hippo pathway. Here, we present an overview about the existing murine models of ACM harboring variants in intercalated disc components with a particular focus on the underlying pathogenic mechanisms. Prospectively, mechanistic insights into the disease pathogenesis will lead to the development of effective targeted therapies for ACM. Full article
(This article belongs to the Special Issue Cardiomyopathy: From Pathologies to Therapy)
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