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iPSC-Derived Cardiomyocytes as a Disease Model: Novel Molecular Research on Inherited Cardiac Pathologies and Therapeutic Opportunities

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 (31 July 2023) | Viewed by 4080

Special Issue Editor

Prof. Dr. Ofer Binah

E-Mail Website
Guest Editor
Department of Physiology, Biophysics and System Biology, Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel
Interests: modeling inherited cardiac pathologies by means of patients’ iPSC-derived cardiomyocyte
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

The focus of this Special Issue is the application of patients'-induced Pluripotent Stem Cells-derived cardiomyocytes (iPSC-CMs) to investigate the cellular and molecular mechanisms underlying inherited cardiac pathologies as well developing new therapeutic modalities. Inherited cardiac pathologies may result from a variety of mutations affecting different cellular components of cardiomyocytes. Mutations affecting structural proteins such as myosin can lead to myosin-related cardiomyopathy while mutations in dystrophin result in Duchenne muscular dystrophy (DMD) known to induce dilated cardiomyopathy (DCM). Metabolic mutations affecting lysosomes and glycogen storage are the basis for the X-linked Danon disease which results in hypertrophic cardiomyopathy (HCM). Channelopathies resulting from mutations in cardiomyocyte ion channels (i.e., channelopathies) are the cause of diseases such as long QT (LQT) syndrome and catecholaminergic polymorphic ventricular tachycardia (CPVT). These examples, as well as others, represent various mechanisms through which genetic mutations lead to cardiomyopathies and other cardiac diseases. Utilizing patients’ iPSC-CMs enables the generation of mutations-specific cardiomyocytes for research providing unprecedented insight into molecular mechanisms underlying the diseases. This, in turn, also enables the development of novel therapeutic approaches targeting newly discovered molecular pathways. In this Special Issue, we will focus on some new research developments pertaining to cardiomyopathies and iPSC research, as well as reviewing advancements made in recent years. 

Dr. Binyamin Eisen is the Guest Editor Assistant who will help Dr. Ofer Binah with managing the Special Issue.

Prof. Dr. Ofer Binah
Guest Editor

Dr. Binyamin Eisen
Guest Editor Assistant

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.

Published Papers (2 papers)

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Research

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16 pages, 4301 KiB  
Article
Calcium Signaling Consequences of RyR2-S4938F Mutation Expressed in Human iPSC-Derived Cardiomyocytes
by Noemi Toth, Xiao-Hua Zhang, Alexandra Zamaro and Martin Morad
Int. J. Mol. Sci. 2023, 24(20), 15307; https://doi.org/10.3390/ijms242015307 - 18 Oct 2023
Viewed by 971
Abstract
Type-2 ryanodine receptor (RyR2) is the major Ca2+ release channel of the cardiac sarcoplasmic reticulum (SR) that controls the rhythm and strength of the heartbeat, but its malfunction may generate severe arrhythmia leading to sudden cardiac death or heart failure. S4938F-RyR2 mutation [...] Read more.
Type-2 ryanodine receptor (RyR2) is the major Ca2+ release channel of the cardiac sarcoplasmic reticulum (SR) that controls the rhythm and strength of the heartbeat, but its malfunction may generate severe arrhythmia leading to sudden cardiac death or heart failure. S4938F-RyR2 mutation in the carboxyl-terminal was expressed in human induced pluripotent stem cells derived cardiomyocytes (hiPSC-CMs) using CRISPR/Cas9 gene-editing technique. Ca2+ signaling and electrophysiological properties of beating cardiomyocytes carrying the mutation were studied using total internal reflection fluorescence microscopy (TIRF) and patch clamp technique. In mutant cells, L-type Ca2+ currents (ICa), measured either by depolarizations to zero mV or repolarizations from +100 mV to –50 mV, and their activated Ca2+ transients were significantly smaller, despite their larger caffeine-triggered Ca2+ release signals compared to wild type (WT) cells, suggesting ICa-induced Ca2+ release (CICR) was compromised. The larger SR Ca2+ content of S4938F-RyR2 cells may underlie the higher frequency of spontaneously occurring Ca2+ sparks and Ca2+ transients and their arrhythmogenic phenotype. Full article
(This article belongs to the Special Issue iPSC-Derived Cardiomyocytes as a Disease Model: Novel Molecular Research on Inherited Cardiac Pathologies and Therapeutic Opportunities)
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Review

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26 pages, 1167 KiB  
Review
Modeling Duchenne Muscular Dystrophy Cardiomyopathy with Patients’ Induced Pluripotent Stem-Cell-Derived Cardiomyocytes
by Binyamin Eisen and Ofer Binah
Int. J. Mol. Sci. 2023, 24(10), 8657; https://doi.org/10.3390/ijms24108657 - 12 May 2023
Viewed by 2645
Abstract
Duchenne muscular dystrophy (DMD) is an X-linked progressive muscle degenerative disease caused by mutations in the dystrophin gene, resulting in death by the end of the third decade of life at the latest. A key aspect of the DMD clinical phenotype is dilated [...] Read more.
Duchenne muscular dystrophy (DMD) is an X-linked progressive muscle degenerative disease caused by mutations in the dystrophin gene, resulting in death by the end of the third decade of life at the latest. A key aspect of the DMD clinical phenotype is dilated cardiomyopathy, affecting virtually all patients by the end of the second decade of life. Furthermore, despite respiratory complications still being the leading cause of death, with advancements in medical care in recent years, cardiac involvement has become an increasing cause of mortality. Over the years, extensive research has been conducted using different DMD animal models, including the mdx mouse. While these models present certain important similarities to human DMD patients, they also have some differences which pose a challenge to researchers. The development of somatic cell reprograming technology has enabled generation of human induced pluripotent stem cells (hiPSCs) which can be differentiated into different cell types. This technology provides a potentially endless pool of human cells for research. Furthermore, hiPSCs can be generated from patients, thus providing patient-specific cells and enabling research tailored to different mutations. DMD cardiac involvement has been shown in animal models to include changes in gene expression of different proteins, abnormal cellular Ca2+ handling, and other aberrations. To gain a better understanding of the disease mechanisms, it is imperative to validate these findings in human cells. Furthermore, with the recent advancements in gene-editing technology, hiPSCs provide a valuable platform for research and development of new therapies including the possibility of regenerative medicine. In this article, we review the DMD cardiac-related research performed so far using human hiPSCs-derived cardiomyocytes (hiPSC-CMs) carrying DMD mutations. Full article
(This article belongs to the Special Issue iPSC-Derived Cardiomyocytes as a Disease Model: Novel Molecular Research on Inherited Cardiac Pathologies and Therapeutic Opportunities)
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