ArticleFrontiers in molecular neuroscience2023
Purine signaling pathway dysfunction in autism spectrum disorders: Evidence from multiple omics data.
Article in Frontiers in molecular neuroscience, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Massively parallel characterization and predictive modelling of neuronal regulatory variation.bioRxiv : the preprint server for biology · 2026Article
- Relationship Between Calcium and Gut Microbial Composition and Metabolic Pathways in Children with Autism.Metabolites · 2026Article
- Role of soluble alpha-klotho as a novel biomarker for characterizing children with autism spectrum disorder in Kurdistan, Iraq.World journal of clinical pediatrics · 2026Article
- Metabolomic signatures of SSRI exposure during neural differentiation and correlation of lysophosphatidylcholines with early symptoms of neurodevelopmental disorders.EBioMedicine · 2026Article
- Mouse strain-specific responses along the gut-brain axis upon fecal microbiota transplantation from children with autism.Gut microbes · 2025Article
- Cerebrospinal fluid metabolomics in autistic regression reveals dysregulation of sphingolipids and decreased β-hydroxybutyrate.EBioMedicine · 2025Article
- A mechanism of global gene expression regulation is disrupted by multiple disease states and drug treatments.PloS one · 2025Article
- Abnormal Porphyrin Metabolism in Autism Spectrum Disorder and Therapeutic Implications.Molecular neurobiology · 2024Review
- Mesenchymal Stem Cells and Purinergic Signaling in Autism Spectrum Disorder: Bridging the Gap between Cell-Based Strategies and Neuro-Immune Modulation.Biomedicines · 2024Review
- Metabolomic changes in children with autism.World journal of clinical pediatrics · 2024Article
- Metabolic network analysis of pre-ASD newborns and 5-year-old children with autism spectrum disorder.Communications biology · 2024Article
- Review
- Bipolar mania and epilepsy pathophysiology and treatment may converge in purine metabolism: A new perspective on available evidence.Neuropharmacology · 2023Review
- Alterations of Purinergic Receptors Levels and Their Involvement in the Glial Cell Morphology in a Pre-Clinical Model of Autism Spectrum Disorders.Brain sciences · 2023Article
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- Altered Purinergic Signaling in Neurodevelopmental Disorders: Focus on P2 Receptors.Biomolecules · 2023Review
- Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Previous studies have suggested that the dysregulation of purine metabolism may be associated with autism spectrum disorder (ASD). Here, we adopted metabolomics and transcriptomics to verify and explore the underlying molecular mechanism of purine metabolism dysfunction in ASD and identify potential biomarkers within the purine metabolism pathway. Methods: Ultra-high-performance liquid chromatography-mass spectrometry was used to obtain the plasma metabolic profiles of 12 patients with ASD and 12 typically developing (TD) children. RNA sequencing was used to screen differentially expressed genes related to the purine metabolic pathway and purine receptor-coding genes in 24 children with ASD and 21 healthy controls. Finally, serum uric acid levels were compared in 80 patients with ASD and 174 TD children to validate the omics results. Results: A total of 66 identified metabolites showed significant between-group differences. Network analysis showed that purine metabolism was the most strongly enriched. Uric acid was one of the most highlighted nodes within the network. The transcriptomic study revealed significant differential expression of three purine metabolism-related genes (adenosine deaminase, adenylosuccinate lyase, and bifunctional enzyme neoformans 5-aminoimidazole-4-carboxamide ribonucleotide (AICAR) transformylase/inosine monophosphate (IMP) cyclohydrolase) ( Discussion: Patients with ASD had dysfunctional purine metabolic pathways, and blood uric acid may be a potential biomarker for ASD.
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