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Updated: May 5, 2026

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Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
Published on: July 12, 2022
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Association between blood mitochondrial DNA copy number and cognitive function: A cross-sectional study based on the
Atsushi Teshigawara1, Genki Mizuno2,3, Hiroya Yamada3
1Department of Preventive Medical Sciences, Fujita Health University, School of Medical Sciences, Toyoake, Aichi, Japan.
Fujita Medical Journal
|May 4, 2026
Summary
Lower mitochondrial DNA copy number (mtDNA-CN) is linked to poorer cognitive function in Japanese adults. This sex-specific association may help identify individuals at risk for cognitive decline.
Area of Science:
- Neuroscience
- Genetics
- Public Health
Background:
- Mitochondrial dysfunction is linked to neurodegenerative diseases.
- Evidence on mitochondrial DNA copy number (mtDNA-CN) and general population cognitive performance is limited.
Purpose of the Study:
- To investigate the association between peripheral blood mtDNA-CN and cognitive function in the Japanese population.
- To explore potential sex-specific differences in this association.
Main Methods:
- Cross-sectional analysis of 282 participants from the Yakumo Study.
- Measurement of peripheral blood mtDNA-CN using quantitative real-time PCR.
- Assessment of cognitive function via SMMSE, LMT, and D-CAT, with logistic regression analysis.
Main Results:
- Lower mtDNA-CN associated with poorer SMMSE scores in women.
- Lower mtDNA-CN associated with reduced D-CAT performance (attention, executive function) in men.
- No significant association found with LMT scores in either sex.
Conclusions:
- mtDNA-CN shows domain- and sex-specific associations with cognitive performance in the general Japanese population.
- mtDNA-CN may serve as a non-invasive biomarker for early identification of cognitive decline risk.
- Further longitudinal studies are needed to confirm predictive utility for dementia prevention.
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