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Updated: Sep 27, 2026

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
DNA methylation changes in gastrointestinal disease
Minoru Toyota1, Fumio Itoh, Takefumi Kikuchi
1First Department of Internal Medicine, Cancer Research Institute, Sapporo Medical University, S-1, W-16, Chuo-ku, Sapporo 060-8543, Japan.
Abstract:
DNA methylation of the 5' region of genes is often associated with gene silencing in X-chromosome inactivation and imprinting. Recent studies have indicated that altered DNA methylation plays a role in the inactivation of multiple tumor suppressor genes and DNA repair genes such as p16INK4A and hMLH1. Colorectal adenomas have a relatively high frequency of methylation, and aberrant methylation is an early event during tumorigenesis. In aging patients, even colon epithelium which appears to be normal showed a significant amount of methylation in a subset of the genes. Colon mucosa from patients with inflammatory bowel disease also showed a high level of methylation. DNA methylation can be a specific diagnostic marker in gastrointestinal cancer and inflammatory bowel disease, for which there is no perfect marker for a noninvasive diagnosis.
Insights
Aberrant DNA methylation in the colon is linked to gastrointestinal cancers and inflammatory bowel disease. This epigenetic change may serve as an early diagnostic marker for these conditions.
Area of Science:
- Epigenetics
- Molecular Biology
- Oncology
Background:
- DNA methylation, particularly in gene 5' regions, is a known mechanism for gene silencing.
- Aberrant DNA methylation is implicated in the inactivation of tumor suppressor genes (e.g., p16INK4A) and DNA repair genes (e.g., hMLH1).
- Colorectal adenomas and even normal-appearing colon epithelium in aging individuals exhibit significant DNA methylation, suggesting its early role in tumorigenesis.
Purpose of the Study:
- To investigate the role of DNA methylation in gastrointestinal cancers and inflammatory bowel disease.
- To explore the potential of DNA methylation as a diagnostic marker for these conditions.
Main Methods:
- Analysis of DNA methylation patterns in colon tissue samples.
- Comparison of methylation levels in normal colon epithelium, adenomas, and mucosa from patients with inflammatory bowel disease.
Main Results:
- Colorectal adenomas demonstrate a high frequency of aberrant DNA methylation.
- Significant DNA methylation was observed in a subset of genes in normal-appearing colon epithelium from aging patients.
- Colon mucosa from patients with inflammatory bowel disease also exhibited elevated DNA methylation levels.
Conclusions:
- Aberrant DNA methylation is an early event in colorectal tumorigenesis.
- DNA methylation patterns may serve as a valuable diagnostic marker for gastrointestinal cancer and inflammatory bowel disease.
- Further research is needed to develop noninvasive diagnostic methods based on DNA methylation.
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