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Updated: Oct 6, 2025

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
09:15

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 of mitochondrial DNA copy number with cardiometabolic diseases

Xue Liu1, Ryan J Longchamps2, Kerri L Wiggins3

  • 1Department of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA.

Cell Genomics
|January 17, 2022
PubMed

Insights

Mitochondrial DNA (mtDNA) copy number (CN) declines with age after 65, increasing risks for obesity, hypertension, diabetes, and hyperlipidemia. This age-related decline in mtDNA CN may be crucial for understanding aging diseases.

Area of Science:

  • Genetics and Aging Research
  • Cardiovascular and Metabolic Diseases

Background:

  • Mitochondrial DNA (mtDNA) exists in multiple copies per cell.
  • mtDNA copy number (CN) is a potential biomarker for cellular health.

Purpose of the Study:

  • To investigate the association between whole blood mtDNA CN and cardiometabolic disease traits.
  • To explore the relationship between age and mtDNA CN across diverse ancestries.

Main Methods:

  • Cross-sectional analysis of 408,361 participants from TOPMed and UK Biobank.
  • Evaluation of associations between mtDNA CN and traits including obesity, hypertension, diabetes, and hyperlipidemia.
  • Age-stratified analysis to identify threshold effects on mtDNA CN.

Main Results:

  • A threshold association of age with mtDNA CN was observed around 65 years.
  • Below 65, mtDNA CN increased with age (0.03 s.d. per decade).
  • Above 65, mtDNA CN decreased significantly with age (0.14 s.d. per decade).
  • Lower mtDNA CN levels were independently associated with increased odds of obesity, hypertension, diabetes, and hyperlipidemia.

Conclusions:

  • The decline in mtDNA CN after 65 years of age is a significant finding.
  • This age-related decrease in mtDNA CN may be a key factor in age-related diseases.
  • mtDNA CN is a potential indicator of cardiometabolic health and aging processes.

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