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Updated: Nov 9, 2025

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
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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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Mitochondria-DNA copy-number and incident venous thromboembolism among middle-aged women: a population-based cohort

Peter Nymberg1, Ashfaque A Memon2, Jan Sundquist2

  • 1Center for Primary Health Care Research, Lund University/Region Skåne, Skåne University Hospital Malmö, University Hospital, Jan Waldenströms gata 35, SE-205 02, Malmö, Sweden. peter.nymberg@med.lu.se.

Journal of Thrombosis and Thrombolysis
|April 15, 2021
PubMed

Insights

Mitochondrial DNA copy number (mtDNA-CN) was not significantly linked to venous thromboembolism (VTE) risk in middle-aged women. This study suggests mtDNA-CN may not be a major biomarker for VTE development.

Area of Science:

  • Cardiovascular Disease Epidemiology
  • Mitochondrial Biology
  • Genetics

Background:

  • Venous thromboembolism (VTE) is a significant cardiovascular disease.
  • Low mitochondrial DNA copy number (mtDNA-CN) is linked to arterial cardiovascular disease and mitochondrial dysfunction.
  • The association between mtDNA-CN and VTE risk remains unexplored.

Purpose of the Study:

  • To investigate the relationship between mtDNA-CN and the incidence of VTE in middle-aged women.
  • To determine if mtDNA-CN can serve as a biomarker for VTE development.

Main Methods:

  • The study analyzed data from 2117 women aged 50-64 years from the Women's Health In the Lund Area (WHILA) study.
  • Mitochondrial DNA copy number (mtDNA-CN) was quantified using droplet digital PCR.
  • Cox regression analysis was employed to assess the association between mtDNA-CN and VTE incidence over a 20-year follow-up period.

Main Results:

  • A total of 87 VTE events occurred during follow-up, with an incidence rate of 2.8 per 1000 person-years.
  • Neither crude nor adjusted hazard ratios indicated a significant association between mtDNA-CN and incident VTE.
  • Sensitivity analyses confirmed these findings, showing no significant link.

Conclusions:

  • Mitochondrial DNA copy number (mtDNA-CN) is not significantly associated with the risk of developing venous thromboembolism (VTE) in middle-aged women.
  • Based on this study, mtDNA-CN, despite reflecting mitochondrial dysfunction, may not be a primary biomarker for VTE.
  • Further research with larger cohorts may be needed to rule out minor associations.

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