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Updated: Jan 11, 2026

Single Cell Transcriptional Profiling of Adult Mouse Cardiomyocytes
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Single Cell Transcriptional Profiling of Adult Mouse Cardiomyocytes

Published on: December 28, 2011

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

Deniz Akdis1, Lukas Weidmann2, Paolo Nanni3

  • 1Department of Cardiology, University Hospital Zurich and University of Zurich, Zurich, Switzerland.

ESC Heart Failure
|November 13, 2025
PubMed

Insights

Arrhythmogenic cardiomyopathy (ACM) is a genetic heart condition. This study identified key molecular pathways and potential biomarkers, OCIAD1 and desmoyokin, in ACM patients, offering new diagnostic insights.

Area of Science:

  • Cardiovascular Research
  • Molecular Biology
  • Genetics

Background:

  • Arrhythmogenic cardiomyopathy (ACM) is a hereditary heart disease marked by fibrofatty tissue replacement and arrhythmias.
  • The precise mechanisms driving ACM and reliable disease markers are not fully understood.

Purpose of the Study:

  • To comprehensively analyze the myocardial transcriptome and proteome in ACM patients.
  • To identify potential plasma and tissue biomarkers for ACM diagnosis and understanding.

Main Methods:

  • Integrated transcriptomic (RNA sequencing) and proteomic (mass spectrometry) analysis of myocardial tissues from ACM, dilated cardiomyopathy (DCM), and healthy control groups.
  • Differential expression and pathway enrichment analyses to pinpoint key biological processes.
  • Validation of selected targets using immunofluorescence and plasma enzyme-linked immunosorbent assays (ELISA).

Main Results:

  • Significant dysregulation of 3030 mRNAs and 206 proteins in ACM compared to healthy controls.
  • Key pathways implicated in ACM include immune activation, inflammation, extracellular matrix remodeling, and mitochondrial stress.
  • OCIAD1 and desmoyokin were consistently upregulated at both transcript and protein levels and detected in plasma, distinguishing ACM patients.

Conclusions:

  • Integrated multi-omics analysis reveals critical pathways in ACM pathogenesis.
  • OCIAD1 and desmoyokin show promise as specific candidate biomarkers for arrhythmogenic cardiomyopathy.
Abstract

Keywords:
arrhythmogenic cardiomyopathybiomarkersproteomicstranscriptomics

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