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Updated: Mar 25, 2026

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
Published on: July 12, 2022
Low Mitochondrial DNA Copy Number is Associated With Adverse Clinical Outcomes in Peritoneal Dialysis Patients
Chang-Yun Yoon1, Jung Tak Park, Youn Kyung Kee
1From the Department of Internal Medicine (C-YY, JTP, YKK, SGH, IMH, YEK, KSP, MJL, SHH, S-WK, T-HY), Yonsei University College of Medicine; and Severance Biomedical Science Institute (S-WK, T-HY), Brain Korea 21 PLUS, Yonsei University College of Medicine, Seoul, Korea.
Abstract:
Mitochondrial dysfunction may play an important role in abnormal glucose metabolism and systemic inflammation. We aimed to investigate the relationship between mitochondrial DNA (mtDNA) copy number and clinical outcomes in peritoneal dialysis (PD) patients. We recruited 120 prevalent PD patients and determined mtDNA copy number by PCR. Primary outcome was all-cause mortality, whereas secondary outcomes included cardiovascular events, technical PD failure, and incident malignancy. Cox proportional hazards analysis determined the independent association of mtDNA copy number with outcomes. The mean patient age was 52.3 years; 42.5% were men. The mean log mtDNA copy number was 3.30 ± 0.50. During a follow-up period of 35.4 ± 19.3 months, all-cause mortality and secondary outcomes were observed in 20.0% and 59.2% of patients, respectively. Secondary outcomes were significantly lower in the highest mtDNA copy number group than in the lower groups. In multiple Cox analysis, the mtDNA copy number was not associated with all-cause mortality (lower two vs highest tertile: hazard ratio [HR] = 1.208, 95% confidence interval [CI] = 0.477-3.061). However, the highest tertile group was significantly associated with lower incidences of secondary outcomes (lower two vs highest tertile: HR [95% CI] = 0.494 [0.277-0.882]) after adjusting for confounding factors. The decreased mtDNA copy number was significantly associated with adverse clinical outcomes in PD patients.
Insights
Lower mitochondrial DNA (mtDNA) copy number is linked to worse clinical outcomes in peritoneal dialysis (PD) patients. This study found decreased mtDNA copy number associated with adverse events, excluding mortality.
Area of Science:
- Nephrology
- Mitochondrial Biology
- Genetics
Background:
- Mitochondrial dysfunction is implicated in abnormal glucose metabolism and systemic inflammation.
- Peritoneal dialysis (PD) patients may experience unique metabolic and inflammatory challenges.
- Mitochondrial DNA (mtDNA) copy number is a potential biomarker for cellular health.
Purpose of the Study:
- To investigate the association between mitochondrial DNA (mtDNA) copy number and clinical outcomes in peritoneal dialysis (PD) patients.
- To determine if mtDNA copy number predicts all-cause mortality, cardiovascular events, technical PD failure, or incident malignancy.
Main Methods:
- 120 prevalent PD patients were recruited.
- Mitochondrial DNA (mtDNA) copy number was quantified using PCR.
- Cox proportional hazards analysis was employed to assess the independent association of mtDNA copy number with clinical outcomes over a mean follow-up of 35.4 months.
Main Results:
- The highest mtDNA copy number tertile was associated with significantly lower incidences of secondary outcomes (cardiovascular events, technical PD failure, malignancy).
- mtDNA copy number was not significantly associated with all-cause mortality.
- Decreased mtDNA copy number showed a significant association with adverse clinical outcomes in PD patients.
Conclusions:
- Mitochondrial DNA (mtDNA) copy number may serve as a prognostic biomarker for adverse clinical outcomes in PD patients, excluding mortality.
- Further research is warranted to explore the therapeutic potential of targeting mitochondrial function in PD.
- The findings highlight the role of mitochondrial health in the systemic complications of chronic kidney disease patients undergoing PD.
Related Concept Videos
Animal Mitochondrial Genetics
Peritoneal Dialysis II: Peritoneal Dialysis Systems and Complications
Mitochondrial Membranes

