Evidence map›Paper›PMID 40879390›Full record

ArticleEuropace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology2025

Comprehensive analysis of desmosomal protein remodelling identifies desmocollin-2 as potential biomarker for arrhythmogenic cardiomyopathy.

Jie Ren, Zhenliang Hu, Lingmin Wu, Deniz Akdis, Weiquan Ye, Ardan M Saguner, Mingming Su, Hongbin Dong, Zhongli Chen, Dan Hu and 3 more

Abstract readMulticenter Study
In one paragraph

Article in Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Review
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

13 authors.

Jie RenState Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167 North Lishi Road, Xicheng District, Beijing 100037, China.ORCID 0000-0002-4595-3281
Zhenliang HuFuwai Hospital, Chinese Academy of Medical Sciences, 12 Langshan Road, Nanshan District, Shenzhen 518057, China.ORCID 0000-0002-5811-8760
Lingmin WuCardiac Arrhythmias Center, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167 North Lishi Road, Xicheng District, Beijing 100037, China.
Deniz AkdisUniversity Heart Center, University Hospital Zurich and University of Zurich, Rämistrasse 100, Zurich CH-8091, Switzerland.ORCID 0000-0003-4561-3540
Weiquan YeCenter of Forensic Science, Jinan University, No. 110 Dongguanzhuang Road, Tianhe District, Guangzhou 510610, China.
Ardan M SagunerUniversity Heart Center, University Hospital Zurich and University of Zurich, Rämistrasse 100, Zurich CH-8091, Switzerland.ORCID 0000-0003-1896-0803
Mingming SuState Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167 North Lishi Road, Xicheng District, Beijing 100037, China.
Hongbin DongDepartment of Radiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167 North Lishi Road, Xicheng District, Beijing 100037, China.ORCID 0009-0008-5286-5571
Zhongli ChenCardiac Arrhythmias Center, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167 North Lishi Road, Xicheng District, Beijing 100037, China.ORCID 0000-0003-3135-2669
Dan HuDepartment of Heart Failure and Cardiomyopathy, Department of Cardiology & Cardiovascular Research Institute, Renmin Hospital of Wuhan University, 238 Jiefang Road, Wuhan 430060, China.ORCID 0000-0002-0994-8434
Shengshou HuState Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167 North Lishi Road, Xicheng District, Beijing 100037, China.ORCID 0009-0003-7192-1149
Firat DuruUniversity Heart Center, University Hospital Zurich and University of Zurich, Rämistrasse 100, Zurich CH-8091, Switzerland.ORCID 0000-0002-4748-0158
Liang ChenState Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167 North Lishi Road, Xicheng District, Beijing 100037, China.ORCID 0000-0001-6374-112X

Funding

Baugarten FoundationChinese Academy of Medical Sciences Innovation Fund for Medical Sciences 2023-I2M-2-003Ein Projekt des USZ Innovationspools-unterstützt durch die Gesundheitsdirektion und die Gönnerinnen und Gönner der USZ FoundationGeorg und Bertha Schwyzer-Winiker-StiftungNational High Level Hospital Clinical Research Funding 2024-GSP-TJ-6National Natural Science Foundation of China 82400430National Natural Science Foundation of China 82470373Shenzhen Science and Technology Program JCYJ20220531091605012Swiss Heart Foundation FF17019Swiss Heart Foundation FF21073Swiss National Science Foundation 10.001.787Swiss National Science Foundation 160327USZ Foundation
6 · The paper itself

Abstract

aimsArrhythmogenic cardiomyopathy (ACM) is a genetically-determined disease characterized by malignant arrhythmias and sudden cardiac death, particularly in young individuals. Mutations in desmosomal genes are a major cause of ACM, but the role of desmocollin-2 (DSC2) remains understudied. METHODS AND

resultsWe conducted a multi-cohort study with 52 ACM patients, 29 with dilated cardiomyopathy (DCM), 17 with hypertrophic cardiomyopathy (HCM), and 45 controls. Immunofluorescence, immunohistochemical staining, and western blot were used to assess DSC2 expression. DSC2 expression was significantly reduced in ACM myocardium compared to controls and other cardiomyopathies (P < 0.0001), consistent across ACM subtypes and validated in an independent cohort. DSC2 down-regulation correlated with clinical characteristics such as age at onset of arrhythmia and heart transplantation. DSC2 reduction in the right ventricle effectively discriminated ACM patients from controls (ROC AUC = 0.8017, P < 0.0001) and distinguished ACM from other cardiac diseases. Immunohistochemical staining in the Swiss cohort confirmed that 11 out of 12 (91.7%) ACM cases exhibited significantly reduced DSC2 signal intensity compared to normal donors. RNA-Seq analysis revealed significant down-regulation of DSC2 genes in ACM tissues.

conclusionDSC2 remodelling is a hallmark of ACM, harbouring significant diagnostic implications. DSC2 reduction is a robust biomarker for ACM, showing high sensitivity and specificity across different subtypes. Future research should elucidate the mechanisms underlying DSC2 down-regulation.

Indexed as

Arrhythmogenic Right Ventricular DysplasiaDesmocollinsDesmosomesMyocardiumAdultBiomarkersCardiomyopathy, DilatedCase-Control StudiesDown-RegulationFemaleHumansImmunohistochemistryMaleMiddle AgedPredictive Value of TestsBiomarkersDesmocollinsDSC2 protein, humanArrhythmogenic cardiomyopathyBiomarkerDesmocollin-2Desmosome

Identifiers

PMID40879390
PMCPMC12448895

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

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 OpenQuestion graph.