Related Experiment Video
Updated: Apr 14, 2026
Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
Published on: July 12, 2022
Elevated mitochondrial DNA copy number in peripheral blood cells is associated with childhood autism
Shan Chen1, Zongchang Li2, Ying He3
1The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, 325027, China. chenshan0121@163.com.
Background:
Several lines of evidence indicate mitochondrial impairment in the pathophysiology of autism. As one of the most common biomarkers for mitochondrial dysfunction, mitochondrial DNA (mtDNA) copy number has also been linked to autism, but the relationship between mtDNA copy number and autism was still obscured. In this study, we performed a case-control study to investigate whether mtDNA copy number in peripheral blood cells is related to patients with autism.
Methods:
Relative mtDNA copy number in peripheral blood cells was measured by using real-time polymerase chain reaction method. The participants in this study included 78 patients with childhood autism and 83 typically developing children.
Results:
We observed children with autism had significantly elevated relative mtDNA copy number than healthy controls (Beta = -0.173, P = 0.0003). However, there were no significant correlations between mtDNA copy number and clinical features (paternal age, maternal age, age of onset, illness of duration, CARS score and ABC score) in childhood autism.
Conclusion:
We show that elevated mtDNA copy number in peripheral blood is associated with autism, indicating that there may be mitochondrial dysfunction in children with autism.
Insights
Children with autism show higher mitochondrial DNA (mtDNA) copy numbers in blood cells compared to healthy children. This finding suggests potential mitochondrial dysfunction in autism spectrum disorder.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Mitochondrial dysfunction is implicated in autism pathophysiology.
- Mitochondrial DNA (mtDNA) copy number is a biomarker for mitochondrial dysfunction.
- The link between mtDNA copy number and autism requires further investigation.
Purpose of the Study:
- To investigate the association between peripheral blood cell mtDNA copy number and autism.
- To determine if mtDNA copy number differs in children with autism compared to typically developing children.
Main Methods:
- A case-control study was conducted.
- Relative mtDNA copy number was measured using real-time polymerase chain reaction.
- Participants included 78 children with autism and 83 typically developing children.
Main Results:
- Children with autism exhibited significantly elevated relative mtDNA copy number compared to controls (Beta = -0.173, P = 0.0003).
- No significant correlations were found between mtDNA copy number and clinical features such as age of onset or severity scores (CARS, ABC).
Conclusions:
- Elevated mtDNA copy number in peripheral blood is associated with autism.
- This association suggests potential mitochondrial dysfunction in children diagnosed with autism spectrum disorder.
More Related Videos
Related Concept Videos
02:59Animal Mitochondrial Genetics
02:26Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
01:19Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.