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Single Cell Transcriptional Profiling of Adult Mouse Cardiomyocytes
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Somatic Genomic and Transcriptomic Changes in Single Ischemic Human Heart Cardiomyocytes

Nazia Hilal1,2,3, Zheming An1,2,3, Maksymilian Prondzynski2,4

  • 1Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.

Research Square
|February 20, 2025
PubMed

Insights

Ischemic heart disease (IHD) damages heart muscle cells, increasing DNA mutations and altering gene expression. This study reveals insights into the genomic and transcriptomic changes in cardiomyocytes affected by IHD.

Area of Science:

  • Cardiology
  • Genomics
  • Molecular Biology

Background:

  • Heart failure, particularly ischemic heart disease (IHD), is a major cause of death and hospitalization globally.
  • The effects of IHD on cardiomyocyte genome and transcriptome are not well understood.
  • Cardiomyocytes accumulate somatic mutations with age, suggesting specific cellular factors may influence this process.

Purpose of the Study:

  • To investigate the impact of IHD on the cardiomyocyte genome and transcriptome.
  • To analyze somatic DNA alterations and gene expression patterns in IHD cardiomyocytes.
  • To understand the molecular mechanisms underlying IHD development.

Main Methods:

  • Analysis of single-cell whole-genome and transcriptome data from human left ventricle samples.
  • Comparison of data from 5 individuals with IHD and 10 healthy controls.
  • In vitro study using induced pluripotent stem cell (iPS)-derived hypoxic cardiomyocytes.

Main Results:

  • Somatic DNA alterations are significantly increased in IHD cardiomyocytes, with distinct mutational patterns.
  • Mutational spectra in IHD cardiomyocytes suggest disrupted DNA repair and a cytotoxic environment.
  • Transcriptomic analysis shows increased expression of EGR1, FOS, and collagen genes, correlating with cardiac fibrosis.

Conclusions:

  • IHD leads to aberrant accumulation of DNA alterations in cardiomyocytes.
  • Transcriptional changes in IHD cardiomyocytes contribute to cardiac fibrosis.
  • These genomic and transcriptomic alterations provide critical insights into IHD pathogenesis.

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