Altered Electrical, Biomolecular, and Immunologic Phenotypes in a Novel Patient-Derived Stem Cell Model of Desmoglein-2 Mutant ARVC
Open accessAbstract
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive heart condition which causes fibro-fatty myocardial scarring, ventricular arrhythmias, and sudden cardiac death. Most cases of ARVC can be linked to pathogenic mutations in the cardiac desmosome, but the pathophysiology is not well understood, particularly in early phases when arrhythmias can develop prior to structural changes. Here, we created a novel human induced pluripotent stem cell-derived cardiomyocyte (hiPSC-CM) model of ARVC from a patient with a c.2358delA variant in desmoglein-2 (DSG2). These DSG2-mutant (DSG2Mut) hiPSC-CMs were compared against two wildtype hiPSC-CM lines via immunostaining, RT-qPCR, Western blot, RNA-Seq, cytokine expression and optical mapping. Mutant cells expressed reduced DSG2 mRNA and had altered localization of desmoglein-2 protein alongside thinner, more disorganized myofibrils. No major changes in other desmosomal proteins were noted. There was increased pro-inflammatory cytokine expression that may be linked to canonical and non-canonical NFκB signaling. Action potentials in DSG2Mut CMs were shorter with increased upstroke heterogeneity, while time-to-peak calcium and calcium decay rate were reduced. These were accompanied by changes in ion channel and calcium handling gene expression. Lastly, suppressing DSG2 in control lines via siRNA allowed partial recapitulation of electrical anomalies noted in DSG2Mut cells. In conclusion, the aberrant cytoskeletal organization, cytokine expression, and electrophysiology found DSG2Mut hiPSC-CMs could underlie early mechanisms of disease manifestation in ARVC patients.
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Elevated levels of circulating and myocardial inflammatory cytokines and chemokines from DGV-linked ACM subjects have been observed across disease phases and phenotypes.
“Prior works have shown elevated levels of circulating [22] and myocardial inflammatory cytokines and chemokines from DGV-linked ACM subjects [11,23] that have been observed across disease phases and phenotypes”
From A Paradigm Shift: Arrhythmogenic Cardiomyopathy Is an Inflammatory Disease (2026) · cites this paper as [23]
Results §3.4 reports elevated inflammatory cytokines and chemokines in DSG2-mutant patient-derived cardiomyocytes and notes a prior finding in Dsg2-mutant mouse myocardium. It does not establish elevated levels in myocardial samples from human subjects across disease phases and phenotypes. The circulating-level claim is attached to a different citation in the citing sentence. (LLM, conf=0.86)
Experimental — accuracy not yet measuredInflammatory processes in ACM may represent more than just an epiphenomenon of immune cell-mediated cardiomyocyte injury.
“suggesting that inflammatory processes may represent more than just an epiphenomenon of immune cell-mediated cardiomyocyte injury.”
From A Paradigm Shift: Arrhythmogenic Cardiomyopathy Is an Inflammatory Disease (2026) · cites this paper as [23]
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Self-citation
- Authors
- Hawthorne, R. N., Blazeski, A., Lowenthal, J., Kannan, S., Teuben, R., DiSilvestre, D., Morrissette-McAlmon, J., Saffitz, J. E., Boheler, K. R., James, C. A., Chelko, S. P., Tomaselli, G., & Tung, L.
- Affiliations
- Johns Hopkins University (US)
- Beth Israel Deaconess Medical Center (US)
- Florida State University (US)
- Albert Einstein College of Medicine (US)
- Corresponding author
- Chelko, Stephen P.
- Tomaselli, Gordon
- Tung, Leslie
- ORCID
- Venue
- Journal of Clinical Medicine
- Publisher
- MDPI AG
- Published
- 2021-07-10
- Volume
- 10
- Issue
- 14
- Pages
- 3061
- ISSN
- 2077-0383 (ISSN-L)
- PMC
- PMC8306340
- OpenAlex
- W3179791530
- Cited by
- 41
- References
- 72
- Citations by year
- 2026: 6 · 2025: 9 · 2024: 9 · 2023: 11 · 2022: 5 · 2021: 1
- FWCI
- 4.35
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Journal of Clinical Medicine (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Funders
- Maryland Stem Cell Research Fund (2016-MSCRF-I-2735)
- National Institutes of Health (R01-HL120959, R01-HL152249, R01-HL152249-S2, R01-HL148348)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
- Keywords
- arrhythmogenic right ventricular cardiomyopathy, desmoglein 2, iPSC-derived cardiomyocytes, desmosomes, cardiomyocyte electrophysiology, calcium handling, inflammatory cytokines, NF-κB signaling, myofibril organization, cytoskeletal organization, disease modeling, sudden cardiac death
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