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Related Concept Videos

Epigenetic Regulation01:46

Epigenetic Regulation

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
Epigenetic Regulation01:37

Epigenetic Regulation

Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...

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Related Experiment Video

Updated: Jun 13, 2026

Enhanced Reduced Representation Bisulfite Sequencing for Assessment of DNA Methylation at Base Pair Resolution
13:47

Enhanced Reduced Representation Bisulfite Sequencing for Assessment of DNA Methylation at Base Pair Resolution

Published on: February 24, 2015

DNA methylation as a universal biomarker.

Victor V Levenson1

  • 1Department of Radiation Oncology, Rush University Medical Center, Chicago, IL 60612, USA. vlev.rush@gmail.com

Expert Review of Molecular Diagnostics
|May 15, 2010
PubMed
Summary

Analyzing cell-free DNA methylation patterns offers accurate biomarkers for disease detection and diagnosis. These epigenetic marks in circulating DNA can distinguish between cancers, benign conditions, and even different organs.

Area of Science:

  • Epigenetics
  • Molecular Biology
  • Biomarker Discovery

Background:

  • Cell-free circulating DNA (cfDNA) contains tumor-specific sequence and epigenetic alterations.
  • DNA methylation, an epigenetic mark, is found in GC-rich cfDNA fragments within gene promoters and CpG islands.
  • cfDNA methylation analysis shows promise for developing accurate diagnostic and prognostic biomarkers.

Purpose of the Study:

  • To explore the potential of cfDNA methylation patterns as biomarkers for disease detection, diagnosis, and prognosis.
  • To investigate the specificity of cfDNA methylation patterns in distinguishing between malignant tumors, benign diseases, and inflammatory conditions.
  • To assess the feasibility of using cfDNA methylation for site-specific cancer diagnosis.

Main Methods:

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Methodology for Accurate Detection of Mitochondrial DNA Methylation

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Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors
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Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors

Published on: August 5, 2022

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Last Updated: Jun 13, 2026

Enhanced Reduced Representation Bisulfite Sequencing for Assessment of DNA Methylation at Base Pair Resolution
13:47

Enhanced Reduced Representation Bisulfite Sequencing for Assessment of DNA Methylation at Base Pair Resolution

Published on: February 24, 2015

Methodology for Accurate Detection of Mitochondrial DNA Methylation
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Methodology for Accurate Detection of Mitochondrial DNA Methylation

Published on: May 20, 2018

Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors
06:07

Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors

Published on: August 5, 2022

  • Analysis of DNA methylation patterns in cell-free circulating DNA.
  • Identification of GC-rich fragments and CpG islands within cfDNA.
  • Comparison of methylation profiles across different disease states and organs.
  • Main Results:

    • cfDNA methylation patterns are distinct for tumor-specific changes, benign diseases, and inflammatory conditions.
    • Specific methylation signatures are observed for cancers originating from different organs, enabling differential diagnosis.
    • Methylation patterns in cfDNA can aid in predicting response to therapy and patient outcomes.

    Conclusions:

    • cfDNA methylation analysis represents a powerful tool for developing highly accurate biomarkers.
    • Methylation-based biomarkers hold potential for early detection, diagnosis, and prognosis across various diseases, including cancer and neurodegenerative disorders.
    • The specificity of cfDNA methylation patterns facilitates differential diagnosis of site-specific cancers and other conditions.