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Updated: Dec 11, 2025

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
Published on: July 12, 2022
Mitochondrial DNA Copy Number is Associated with Attention Deficit Hyperactivity Disorder
Hakan Öğütlü1, İbrahim Selçuk Esin, Haktan Bağiş Erdem
1Department of Child and Adolescent Psychiatry, Ankara City Hospital, 06000 Ankara, Turkey, hogutlu@gmail.com.
Children with Attention Deficit Hyperactivity Disorder (ADHD) show higher mitochondrial DNA (mtDNA) copy numbers, suggesting mitochondrial dysfunction may play a role in ADHD development.
Area of Science:
- Pediatric Neurology
- Genetics
- Biochemistry
Background:
- Attention Deficit Hyperactivity Disorder (ADHD) is a prevalent childhood psychiatric condition.
- Mitochondrial dysfunction (MD) is a proposed etiological factor in ADHD.
- Mitochondrial DNA (mtDNA) levels in leukocytes serve as a biomarker for MD.
Purpose of the Study:
- To investigate the association between mitochondrial dysfunction and ADHD.
- To compare mtDNA copy numbers in children with and without ADHD.
Main Methods:
- The study included 56 treatment-naïve children diagnosed with ADHD and 56 age- and sex-matched controls.
- Real-time PCR was used to quantify relative mtDNA copy number in peripheral blood leukocytes.
Main Results:
- Children with ADHD exhibited significantly higher mean mtDNA copy numbers (57.623±24.827) compared to controls (44.204±18.926; p=0.002).
- Receiver Operating Characteristic (ROC) curve analysis identified a mtDNA cutoff value of 45.
Conclusions:
- Elevated mtDNA copy number in the ADHD group suggests a potential link to mitochondrial dysfunction.
- Mitochondrial dysfunction may be implicated in the etiopathogenesis of ADHD.
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