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Purine signaling pathway dysfunction in autism spectrum disorders: Evidence from multiple omics data
Si Dai1, Jingjing Lin1, Yanting Hou1
1Department of Psychiatry, National Clinical Research Center for Mental Disorders, The Second Xiangya Hospital of Central South University, Changsha, Hunan, China.
Frontiers in Molecular Neuroscience
|February 23, 2023
Summary
Autism spectrum disorder (ASD) is linked to purine metabolism dysfunction. Blood uric acid levels may serve as a potential biomarker for identifying autism spectrum disorder (ASD).
Area of Science:
- Biochemistry
- Genetics
- Neuroscience
Background:
- Purine metabolism dysregulation has been previously suggested to be associated with autism spectrum disorder (ASD).
- Understanding the molecular mechanisms underlying purine metabolism dysfunction in ASD is crucial for identifying potential biomarkers.
Purpose of the Study:
- To verify and explore the underlying molecular mechanism of purine metabolism dysfunction in ASD.
- To identify potential biomarkers within the purine metabolism pathway for ASD.
Main Methods:
- Plasma metabolic profiles were analyzed using ultra-high-performance liquid chromatography-mass spectrometry.
- RNA sequencing was employed to screen differentially expressed genes related to purine metabolism and purinergic receptors.
- Serum uric acid levels were measured to validate omics findings.
Main Results:
- Significant differences in 66 identified metabolites were observed between ASD patients and typically developing (TD) children.
- Network analysis highlighted purine metabolism as the most enriched pathway, with uric acid as a key node.
- Differential expression of three purine metabolism-related genes and five purinergic receptor genes was identified. Serum uric acid levels were significantly different between groups (p < 0.001), with an AUC of 0.812.
Conclusions:
- Patients with ASD exhibit dysfunctional purine metabolic pathways.
- Blood uric acid presents as a potential and validated biomarker for ASD.
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