Nordic Journal of Psychiatry · 2023 · 19 citations · 36 references
MedicineNeurosciencePediatricsAutism Spectrum DisordersClinical BiochemistryPediatric PathologyNeurodevelopmental DisordersPediatric Intestinal DisordersBeta-catenin RegulationBlood-brain Barrier PathologyBlood-brain Barrier PermeabilityBlood-tissue Barrier PermeabilityClaudin-5 RegulationControl Group DesignMatched Control GroupPediatric Biomarkers
AIM: Increased intestinal and blood-brain barriers (BBB) permeability has been suggested to have a role in autism spectrum disorder (ASD). Claudin-5, claudin-11, occludin, β-catenin, vinculin, and paxillin are crucial components of these barriers. This study assessed concentrations of these molecules in preschool children with ASD. METHODS: A total of 80 children with ASD and 40 controls aged 18-60 months were enrolled in this study. Serum levels of biochemical variables were determined using commercial enzyme-linked immunosorbent assay kits. RESULTS: Serum claudin-11, occludin, and β-catenin levels were significantly higher in the ASD group than in the control group. However, no significant difference for serum claudin-5, vinculin, and paxillin levels was detected between the groups. CONCLUSION: These findings suggest that claudin-11, occludin, and β-catenin may be involved in the pathogenesis of ASD. These proteins may affect the brain by causing dysregulation in intestinal or blood-brain barrier permeability or with other unknown mechanisms.
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Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
Brian J. O’Roak, Laura Vives, Wenqing Fu et al. · Science · 2012 · 1.3K citations · Full text