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Updated: May 10, 2025

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
Published on: July 12, 2022
Mitochondrial DNA copy numbers in gastric cancer tissues: a possible biomarker for estimating cancer progression
Hisanori Fukunaga1, Mayuko Fukunaga2,3
1Department of Biomedical Science and Engineering, Faculty of Health Sciences, Hokkaido University, N12 W5 Kita-ku, Sapporo 060-0812, Japan.
Background:
Mitochondria have their own genome (mtDNA), which in humans is a circular multi-copy genome consisting of 16 569 base pairs. Abnormalities in the mtDNA have been reported to correlate with various age-related pathophysiologies.
Methods:
Based on a total of 182 DNA samples extracted from gastric cancer tissues, we measured mtDNA copy numbers (mtDNA-CN) using real-time polymerase chain reaction (PCR) and then examined alongside sex, age, tumor stage, Laurén classification, and the overexpression of Human Epidermal Growth Factor Receptor 2 (HER2).
Results:
We found no sex differences in mtDNA-CN and no correlation with age, but significant differences according to tumor stage. The mtDNAcn of intestinal type by Laurén classification was significantly larger than that of diffuse type. There was no significant difference in mtDNA-CN between HER2-positive and -negative tissues. Multiple regression analyses showed that only the tumor stage was a significant variable, while Laurén classification was not.
Conclusion:
These results indicate that mitochondrial genomic abnormalities contribute the progression of gastric cancer independently of HER2 overexpression, and may shed light on the emerging role of mtDNA-CN in situ as a possible biomarker for estimating cancer progression.

