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Updated: Aug 15, 2026

Transmitochondrial Cybrid Generation Using Cancer Cell Lines
Published on: March 17, 2023
Somatic mutations of mitochondrial DNA in digestive tract cancers
Kazuhiro Kose1, Toru Hiyama, Shinji Tanaka
1Department of Medicine and Molecular Science, Division of Frontier Medical Science, Programs for Biomedical Research, Graduate School of Biomedical Sciences, Hiroshima, Japan.
Background:
Somatic mutations of mitochondrial DNA (mtDNA) have been reported to play an important role in the carcinogenesis of several human cancers. However, there are few reports on mtDNA mutations in digestive tract cancers, including esophageal, gastric and colorectal cancers. The present study examined somatic mtDNA mutations in these cancers.
Methods:
Samples of 82 esophageal cancers, 96 gastric cancers and 138 colorectal cancers were collected. Mutations in the D310 mononucleotide repeat of mtDNA were examined by microsatellite assay.
Results:
Frequencies of mtDNA mutations were similar in each digestive tract cancer: 14% (7/51) in esophageal cancers, 15% (14/94) in gastric cancers and 8% (11/133) in colorectal cancers. There were no significant relationships between mtDNA mutations and clinicopathological features, such as patient age or sex, tumor location, depth of tumor invasion and lymph node metastasis in each digestive tract cancer.
Conclusions:
The results suggest that mtDNA mutations play a role in the development but not progression in each digestive tract cancer, and that the role of mtDNA mutations might be similar among the digestive tract cancers.
Insights
Somatic mitochondrial DNA (mtDNA) mutations are implicated in digestive tract cancers, showing similar frequencies across esophageal, gastric, and colorectal types. These mutations appear to influence cancer development rather than progression.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Somatic mitochondrial DNA (mtDNA) mutations are linked to human cancer development.
- Limited research exists on mtDNA mutations in digestive tract cancers (esophageal, gastric, colorectal).
Purpose of the Study:
- To investigate the presence and role of somatic mtDNA mutations in esophageal, gastric, and colorectal cancers.
- To determine if mtDNA mutations correlate with clinicopathological features in these cancers.
Main Methods:
- Collected samples from 82 esophageal, 96 gastric, and 138 colorectal cancers.
- Analyzed mutations in the D310 mononucleotide repeat of mtDNA using microsatellite assay.
Main Results:
- Identified similar frequencies of mtDNA mutations across digestive tract cancers: 14% in esophageal, 15% in gastric, and 8% in colorectal.
- Found no significant associations between mtDNA mutations and clinicopathological factors like age, sex, tumor location, invasion depth, or lymph node metastasis.
Conclusions:
- Somatic mtDNA mutations likely contribute to the development of digestive tract cancers.
- The role of mtDNA mutations in cancer appears consistent across esophageal, gastric, and colorectal types.
- mtDNA mutations may be involved in cancer initiation but not in disease progression.
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