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Exploring transcriptomic signatures in sudden unexplained death (SUD) cases.

Jacqueline Neubauer1, Guro Dørum1,2, Cordula Haas3

  • 1Zurich Institute of Forensic Medicine, University of Zurich, Zurich, Switzerland.

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|February 21, 2025
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Summary
This summary is machine-generated.

Whole transcriptome sequencing of sudden unexplained death (SUD) hearts revealed altered gene expression in angiogenesis and metabolism. This transcriptomic signature offers insights into cardiac disease pathways, though larger studies are needed for unresolved cases.

Keywords:
Cardiac diseasesMolecular autopsySudden unexplained deathTranscriptome

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Area of Science:

  • Cardiovascular research
  • Genomics
  • Molecular pathology

Background:

  • Molecular autopsy identifies genetic variants in ~50% of sudden unexplained death (SUD) cases.
  • Many SUD cases remain genetically unresolved, necessitating advanced omics approaches.
  • Whole transcriptome sequencing investigates gene expression patterns in SUD to uncover pathogenic mechanisms.

Purpose of the Study:

  • To identify disease-specific transcriptome signatures in sudden unexplained death (SUD) heart tissue.
  • To explore gene expression differences between SUD cases and controls using whole transcriptome sequencing.

Main Methods:

  • Whole transcriptome sequencing of heart samples from 43 SUD cases and 17 controls.
  • Principal Component Analysis (PCA) for sample clustering.
  • Differential gene expression analysis using DESeq2.
  • Pathway analysis to identify enriched biological processes.

Main Results:

  • PCA did not clearly separate SUD cases from controls.
  • 1,676 differentially expressed genes identified between SUD and controls.
  • Upregulated genes in SUD were linked to angiogenesis, blood vessel development, and cell adhesion.
  • Downregulated genes were associated with amide/peptide biosynthesis and fatty acid metabolism.
  • Subgroup analysis revealed unique gene expression patterns within SUD cases.

Conclusions:

  • Gene expression analysis of SUD heart tissue is a promising avenue for identifying cardiac disease pathways.
  • Transcriptomic signatures may elucidate pathological mechanisms in sudden death.
  • Further studies in larger cohorts are necessary due to SUD heterogeneity and unclear phenotypes.