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Mutations

Mutations

Gene Conversion

Gene Conversion

Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...

Cell Specific Gene Expression

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Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...

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Genome Copying Errors

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Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
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Related Experiment Video

Updated: May 17, 2026

Single Cell Transcriptional Profiling of Adult Mouse Cardiomyocytes

Single Cell Transcriptional Profiling of Adult Mouse Cardiomyocytes

Published on: December 28, 2011

Somatic Genomic and Transcriptomic Changes in Single Ischemic Human Heart Cardiomyocytes.

Nazia Hilal^1,2,3, Zheming An^1,2,3, Maksymilian Prondzynski^2,4

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

Research Square

|February 20, 2025

Summary

This summary is machine-generated.

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.

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Last Updated: May 17, 2026

Single Cell Transcriptional Profiling of Adult Mouse Cardiomyocytes

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Published on: December 28, 2011

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Published on: September 7, 2014

Isolation and Functional Characterization of Human Ventricular Cardiomyocytes from Fresh Surgical Samples

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Published on: April 21, 2014

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.