Evidence map›Paper›PMID 41229088›Full record

ArticleESC heart failure2025

Transcriptomic and proteomic profiling shows dysregulated immune and metabolic pathways in arrhythmogenic cardiomyopathy.

Deniz Akdis, Lukas Weidmann, Paolo Nanni, Anna Gaertner, Hendrik Milting, Peter Bode, Corinna Brunckhorst, Liang Chen, Felix C Tanner, Frank Ruschitzka and 2 more

Abstract read
In one paragraph

Article in ESC heart failure, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Deniz AkdisDepartment of Cardiology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.
Lukas WeidmannDepartment of Nephrology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.
Paolo NanniFunctional Genomics Center Zurich, University of Zurich/ETH Zurich, Zurich, Switzerland.
Anna GaertnerErich and Hanna Klessmann Institute for Cardiovascular Research and Development, Heart and Diabetes Centre NRW, University Hospital of the Ruhr-University, Bad Oeynhausen, Germany.
Hendrik MiltingErich and Hanna Klessmann Institute for Cardiovascular Research and Development, Heart and Diabetes Centre NRW, University Hospital of the Ruhr-University, Bad Oeynhausen, Germany.
Peter BodeInstitute of Pathology, Cantonal Hospital Winterthur, Winterthur, Switzerland.
Corinna BrunckhorstDepartment of Cardiology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.
Liang ChenCenter for Translational and Experimental Cardiology (CTEC), University of Zurich, Zurich, Switzerland.
Felix C TannerDepartment of Cardiology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.
Frank RuschitzkaDepartment of Cardiology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.
Ardan M SagunerDepartment of Cardiology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.
Firat DuruDepartment of Cardiology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.

Funding

Baugarten StiftungETH Personalized Medicine ProgramGeorg und Bertha Schwyzer-Winiker-StiftungNational Science FoundationSchweizerische HerzstiftungStiftung Max und Sophielène Iten-KohautUSZ Foundation
6 · The paper itself

Abstract

aimsArrhythmogenic cardiomyopathy (ACM) is a hereditary heart disease characterized by fibrofatty myocardial replacement and a predisposition to malignant ventricular arrhythmias. The underlying pathomechanisms remain incompletely understood, and specific disease markers are sparse. This study aimed to characterize the myocardial transcriptome and proteome in ACM patients and assess whether key identified molecules were also detectable in plasma and tissue samples. METHODS AND

resultsMyocardial tissues were obtained from ACM and dilated cardiomyopathy (DCM) patients as well as healthy controls (n = 10/group). Transcriptomic profiling was performed by RNA sequencing and proteomic profiling by label-free liquid chromatography-tandem mass spectrometry. Differential expression and pathway enrichment analyses were performed to identify key biological processes. Selected targets were validated by tissue immunofluorescence and plasma ELISA. Transcriptomic analysis revealed 3030 dysregulated mRNAs in ACM versus healthy controls and 120 versus DCM. Enriched clusters in ACM versus healthy controls were related to immune activation, inflammation, extracellular matrix remodelling and mitochondrial stress; redox and metabolic processes, cell junction regulation and immune responses were enriched clusters in ACM versus DCM. Proteomics identified 206 and 65 differentially expressed proteins, respectively. Three novel proteins, UCHL1, OCIAD1 and desmoyokin, were consistently up-regulated at transcript and protein levels. The latter two were confirmed in myocardial tissue staining and showed elevated plasma levels in ACM compared with DCM and controls.

conclusionThis integrated transcriptomic and proteomic study of myocardial tissue and plasma from patients with ACM compared with those with DCM and healthy controls, identified key dysregulated pathways, involving immune response, inflammation and oxidative and mitochondrial stress. Desmoyokin and OCIAD1, in particular, may represent specific candidate biomarkers for ACM.

Indexed as

Arrhythmogenic Right Ventricular DysplasiaGene Expression ProfilingMetabolic Networks and PathwaysMyocardiumProteomeProteomicsTranscriptomeAdultBiomarkersFemaleHumansMaleMiddle AgedBiomarkersProteomearrhythmogenic cardiomyopathybiomarkersproteomicstranscriptomics

Identifiers

PMID41229088
PMCPMC12719808

What Socratic holds

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LicenceCC BY-NC
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.