Topal Hatice, Sahin Nilfer, Ozdemir Cilem, Nehir Yazici Özlem, Demirkan Baskaya Gulsum, Topal Yasar, Edgunlu Tuba
Department of Pediatrics, Faculty of Medicine, Muğla Sıtkı Koçman University, Mugla, Türkiye.
Department of Child and Adolescent Psychiatry, Faculty of Medicine, Muğla Sıtkı Koçman University, Mugla, Türkiye.
Front Psychiatry. 2025 Aug 12;16:1587727. doi: 10.3389/fpsyt.2025.1587727. eCollection 2025.
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social interaction deficits and repetitive behaviors. This study explores the potential role of G protein subunits GNAO1, GNB1, and GNAI1 in the underlying mechanisms by comparing their serum levels in individuals with ASD and non-autistic participants.
We enrolled 42 children (aged 3-7 years) diagnosed with ASD and 42 age- and sex-matched non-autistic participants. Serum levels of GNAO1, GNB1, and GNAI1 were quantified using ELISA. Additionally, in silico analysis was conducted to investigate protein interaction networks and functional enrichment.
Serum GNAO1 levels were significantly decreased (=0.049), while GNAI1 levels were significantly increased (=0.046) in the ASD group compared to controls. No significant difference was observed in GNB1 levels (=0.141). In silico analysis implicated these proteins in GABAergic and dopamine signaling pathways, both of which are critically involved in neurobiological basis of ASD.
Our findings suggest that dysregulation of G protein signaling pathways, characterized by reduced GNAO1 and increased GNAI1 levels, may contribute to underlying mechanisms of ASD. Further research is warranted to clarify the mechanistic roles of these subunits in ASD and their potential as biomarkers or therapeutic targets.
自闭症谱系障碍（ASD）是一种神经发育障碍，其特征为社交互动缺陷和重复行为。本研究通过比较自闭症患者与非自闭症参与者的血清水平，探讨G蛋白亚基GNAO1、GNB1和GNAI1在潜在机制中的作用。
我们招募了42名诊断为ASD的3至7岁儿童以及42名年龄和性别匹配的非自闭症参与者。使用酶联免疫吸附测定（ELISA）对血清中GNAO1、GNB1和GNAI1的水平进行定量。此外，还进行了计算机分析以研究蛋白质相互作用网络和功能富集。
与对照组相比，ASD组血清GNAO1水平显著降低（=0.049），而GNAI1水平显著升高（=0.046）。GNB1水平未见显著差异（=0.141）。计算机分析表明这些蛋白质参与了γ-氨基丁酸能（GABAergic）和多巴胺信号通路，这两条通路均在ASD的神经生物学基础中起关键作用。
我们的研究结果表明，以GNAO1水平降低和GNAI1水平升高为特征的G蛋白信号通路失调可能促成了ASD的潜在机制。有必要进一步研究以阐明这些亚基在ASD中的作用机制及其作为生物标志物或治疗靶点的潜力。
