Institute of Molecular Medicine, The Feinstein Institutes for Medical Research, Northwell Health System, Manhasset, New York, NY, USA.
Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY, USA.
Transl Psychiatry. 2023 Feb 3;13(1):37. doi: 10.1038/s41398-023-02335-3.
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder with multifactorial etiologies involving both genetic and environmental factors. In the past two decades it has become clear that in utero exposure to toxins, inflammation, microbiome, and antibodies (Abs), may play a role in the etiology of ASD. Maternal brain-reactive Abs, present in 10-20% of mothers of a child with ASD, pose a potential risk to the developing brain because they can gain access to the brain during gestation, altering brain development during a critical period. Different maternal anti-brain Abs have been associated with ASD and have been suggested to bind extracellular or intracellular neuronal antigens. Clinical data from various cohorts support the increase in prevalence of such maternal brain-reactive Abs in mothers of a child with ASD compared to mothers of a typically developing child. Animal models of both non-human primates and rodents have provided compelling evidence supporting a pathogenic role of these Abs. In this review we summarize the data from clinical and animal models addressing the role of pathogenic maternal Abs in ASD. We propose that maternal brain-reactive Abs are an overlooked and promising field of research, representing a modifiable risk factor that may account for up to 20% of cases of ASD. More studies are needed to better characterize the Abs that contribute to the risk of having a child with ASD, to understand whether we can we predict such cases of ASD, and to better pinpoint the antigenic specificity of these Abs and their mechanisms of pathogenicity.
自闭症谱系障碍(ASD)是一种具有多种病因的神经发育障碍,涉及遗传和环境因素。在过去的二十年中,越来越明显的是,胎儿期暴露于毒素、炎症、微生物组和抗体(Abs)可能在 ASD 的病因中起作用。在 10-20%的 ASD 患儿的母亲中存在针对大脑的母体 Abs,它们可能对发育中的大脑构成潜在风险,因为它们可以在怀孕期间进入大脑,在关键时期改变大脑发育。不同的母体抗脑 Abs 与 ASD 相关,并被认为与细胞外或细胞内神经元抗原结合。来自不同队列的临床数据支持 ASD 患儿的母亲中存在此类母体脑反应性 Abs 的流行率增加,而典型发育儿童的母亲中则不存在。非人类灵长类动物和啮齿动物的动物模型提供了令人信服的证据,支持这些 Abs 的致病性作用。在这篇综述中,我们总结了涉及致病性母体 Abs 在 ASD 中作用的临床和动物模型数据。我们提出,母体脑反应性 Abs 是一个被忽视但很有前途的研究领域,代表了一种可改变的风险因素,可能占 ASD 病例的 20%。需要更多的研究来更好地描述导致 ASD 患儿风险的 Abs,以了解我们是否可以预测这种 ASD 病例,并更好地确定这些 Abs 的抗原特异性及其致病性机制。