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Updated: Nov 30, 2025

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
Published on: July 12, 2022
Differences in mitochondrial DNA copy number between patients with bipolar I and II disorders
Jae Kyung Chung1, Yong Min Ahn2, Soon Ae Kim3
1Department of Psychiatry, Eumsung-somang Hospital, Eumsung, Republic of Korea.
Abstract:
Mitochondria play a critical role in energy metabolism. Genetic, postmortem brain, and brain imaging studies of bipolar disorder (BD) patients indicated that mitochondrial dysfunction might explain BD pathophysiology. Mitochondrial function can be indirectly evaluated by measuring mitochondrial DNA (mtDNA) copy numbers. We recruited 186 bipolar I disorder (BD1) and 95 bipolar II disorder (BD2) patients, and age- and sex-matched controls. MtDNA copy numbers in peripheral blood cells were measured via quantitative polymerase chain reaction. We explored parameters (including age and clinical features) that might affect mtDNA copy numbers. We found that BD1 patients had a lower mtDNA copy number than controls and that mtDNA copy number was negatively associated with the number of mood episodes. BD2 patients had a higher mtDNA copy number than controls. Thus, changes in mitochondrial function may influence BD pathophysiology. The opposite directions of the association with mtDNA copy number in BD1 and BD2 patients suggests that the difference in pathophysiology may be associated with mitochondrial function.
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