2025 Hyper Recent •CC0 1.0 Universal

This work is dedicated to the public domain. No rights reserved.

Access Preprint From Server
June 3rd, 2025
Version: 1
University of Michigan
genetics
biorxiv

Desmoplakin Haploinsufficiency Underlies Cell-Cell Adhesion Failure in DSP Cardiomyopathy and is Rescued by Transcriptional Activation

Smith, E. D.Open in Google Scholar•Jin, K.Open in Google Scholar•Ferguson, B.Open in Google Scholar•Tsan, Y.-C.Open in Google Scholar•DePalma, S. J.Open in Google Scholar•Meisner, J. K.Open in Google Scholar•Renberg, A.Open in Google Scholar•Bedi, K.Open in Google Scholar•Friedline, S.Open in Google Scholar•Margulies, K. B.Open in Google Scholaret al.

Background: Truncating variants in desmoplakin (DSPtv), are a leading cause of arrhythmogenic cardiomyopathy (ACM), often presenting with early fibrosis and arrhythmias disproportionate to systolic dysfunction. DSP is critical for cardiac mechanical integrity, linking desmosomes to the cytoskeleton to withstand contractile forces. While loss-of-function is implicated, direct evidence, both for DSP haploinsufficiency in human hearts and for the impact of mechanical stress on cardiomyocyte adhesion, has been limited, leaving the pathogenic mechanism unclear. Methods: We analyzed explanted human heart tissue from patients with DSPtv (N=3), titin truncating variants (TTNtv, N=5), and controls (N=5) using RNA-sequencing and mass spectrometry. We generated human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) harboring patient-derived or CRISPR-Cas9 engineered DSPtv to model a range of DSP expression levels. Using a 2D cardiac muscle bundle (CMB) platform enabling live visualization of cell junctions, we developed an assay to assess cell-cell adhesion upon heightened contractile stress in response to the contractile agonist endothelin-1. CRISPR-interference (CRISPRi) was used to confirm the role of DSP loss, and CRISPR-activation (CRISPRa) was tested for therapeutic rescue. Results: Compared to both control and TTNtv hearts, DSPtv human hearts exhibited reduced DSP at both the mRNA and protein level, as well as broadly disrupted desmosomal stoichiometry. Transcriptomic and proteomic analyses implicated cell adhesion, extracellular matrix, and inflammatory pathways. iPSC-CM models recapitulated DSP haploinsufficiency and desmosomal disruption. DSPtv CMBs showed normal baseline contractile function. However, they displayed marked cell-cell adhesion failure with contractile stress (75% failure vs. 8% in controls, p<0.001). Adhesion failure was prevented by the myosin inhibitor, mavacamten. CRISPRi-mediated DSP knockdown replicated this susceptibility to adhesion failure. Conversely, CRISPRa robustly increased DSP expression and rescued cell-cell adhesion failure in DSPtv CMBs (9% failure post-CRISPRa, p<0.001 vs. un-treated). Rescue occurred even when only the DSPII isoform was upregulated in a model with biallelic DSP transcript 1 loss of function. Conclusions: DSP haploinsufficiency is the major cause of DSP cardiomyopathy with a primary consequence of conferring vulnerability to cardiomyocyte cell-cell adhesion failure under heightened contractile stress. Transcriptional activation of DSP reverses this defect in preclinical models, establishing proof-of-concept for a potential therapeutic strategy in DSP cardiomyopathy.

Similar Papers

biorxiv
Thu Jun 05 2025
Isolation of Cyclotide Gene from Solanaceae Family and Its Bioinformatics Analysis
Abstract: Cyclotides are highly tolerant of sequence variability, aside from the conserved residues forming the cystine knot. Cyclotides have attractive natural movement capabilities including cytotoxicity, harmfulness to HIV, antimicrobials, insecticides, uterine contraction and inhibition of proteases, making them very important in pharmacy and horticulture. The medicinal cyclotides may be able ...
Hussain, M.
•
Ahmad, M.
biorxiv
Thu Jun 05 2025
Establishing a DNA reference library for the identification of elasmobranchs in the Indian Ocean using Oxford Nanopore Sequencing
Elasmobranchs, comprising sharks and rays, are among the most threatened species globally. The first elasmobranchs were added to the Convention on International Trade in Endangered Species of Wild Fauna and Flora (CITES) in 2002. Since then, the number of species listed has increased to 151, highlighting the urgent conservation challenges faced by these species. In Sri Lanka, where over 100 specie...
Anjani, L.
•
Tanna, A.
•
Humble, E.
•
Sandamalika, G.
...•
Fernando, D.
biorxiv
Thu Jun 05 2025
Leech Speciation and Detection of Hirudin Gene among the Leech Population in Asejire Oyo State, Nigeria
Leeches are segmented, parasitic and sanguivorous worms of the family Hirudinae and phylum Annelida. Various ailments have been treated with them since ancient times. Recent evidence has established the presence of over 100 medicinally useful bioactive substances in their saliva. Based on the therapeutic properties of the substances, they have been used in different areas of medical care and most ...
Olajide, T. H.
•
Ajileye, A. O.
•
Bamikole, O. J.
•
Olufeagba, M.-d. B.
...•
Amodu, O. k.
biorxiv
Thu Jun 05 2025
Natural variation in phospholipase IPLA2-VIA contributes to starvation sensitivity in Drosophila melanogaster
Resistance to starvation is a classic complex trait where genetic and environmental variables can greatly modify an animals ability to survive without nutrients. Genetic analyses in Drosophila have shown that starvation resistance is highly polygenic with different genetic architectures in different mapping populations. In this study we sought to dissect the genetic basis of starvation resistance ...
Rand, D. M.
•
Williams, S. B.
•
Franklin, B.
•
Lemieux, F. A.
biorxiv
Wed Jun 04 2025
Female-germline specific protein Sakura interacts with Otu and is crucial for germline stem cell renewal and differentiation and oogenesis
During oogenesis, self-renewal and differentiation of germline stem cells (GSCs) must be tightly regulated. The Drosophila female germline serves as an excellent model for studying these regulatory mechanisms. Here, we report that a previously uncharacterized gene CG14545, which we named sakura, is essential for oogenesis and female fertility in Drosophila. Sakura is predominantly expressed in the...
Azlan, A.
•
Zhu, L.
•
Fukunaga, R.
biorxiv
Wed Jun 04 2025
A cross-species rescue by mating method to interrogate gene essentiality across the Saccharomyces genus.
The field of budding yeast research has long been empowered by the vast array of genetic tools and community resources available. Rescue by mating is one useful tool that entails mating of meiotic spores directly post-germination. This minimal cell division mating process facilitates mating based screens studying the effects of otherwise haploid lethal gene deletions. In this study, we describe th...
Wang, T. K.
•
Keller, A.
•
Kunjo, S. O.
•
Dunham, M. J.
biorxiv
Wed Jun 04 2025
Population-scale inheritance analysis of 858,635 individuals reveals North Sea migration from the Middle Ages to the Industrial Revolution
The North Sea's historical migrations have impacted the genetic structure of its neighbouring populations. We analysed haplotype sharing among 858,635 modern individuals from Denmark and Britain to infer migration history from the Middle Ages to the modern day. We estimated the genetic relationship among 370,259 Danes using Danish healthcare registries and validated those with retrievable pedigree...
Zhang, X.
•
Holm, P.
•
Scally, A.
•
Banasik, K.
...•
Birney, E.
biorxiv
Wed Jun 04 2025
Abundant Parent-of-origin Effect eQTL in Humans: The Framingham Heart Study
Parent-of-origin effect (POE) is a phenomenon whereby an allele's effect on a phenotype depends both on its allelic identity and parent from whom the allele is inherited, as exemplified by the polar overdominance in the ovine callypyge locus and the human obesity DLK1 locus. Systematic studies of POE of expression quantitative trait loci (eQTL) are lacking. In this study we use trios among partici...
Guan, Y.
•
Huan, T.
•
Levy, D.
biorxiv
Wed Jun 04 2025
The Insertion of an ATTTC Repeat in an Alu Element Hyperactivates a Primate-Specific Neurodevelopmental Enhancer in Spinocerebellar Ataxia Type 37
Alu are evolutionarily very old primate-specific interspersed repeat elements that constitute ~11% of the human genome. They are a source of short tandem repeats (STRs), which often expand in size and originate inherited neuromuscular and neurodegenerative disorders. How expanded STR insertion mutations within Alu STRs culminate in disease remains unknown. Here we report an Alu STR located in an i...
Loureiro, J. R.
•
Castro, A. F.
•
Figueiredo, A. S.
•
Eufrasio, A.
...•
Silveira, I.
biorxiv
Wed Jun 04 2025
Reconciling the effects of PMS2 in different repeat expansion disease models supports a common therapeutic strategy
Expansion of a disease-specific tandem repeat is responsible for >45 Repeat Expansion Diseases (REDs). The expansion mutation in each of these diseases has different pathological consequences and most are currently incurable. If the underlying mechanism of mutation is shared, a strategy that slows repeat expansion in one RED may be applicable to multiple REDs. However, the fact that PMS2, a compon...
Jimenez, D. A.
•
Miller, C. J.
•
Walker, A.
•
Anupindi, K.
...•
Zhao, X.