Ju Jun, Pan Yifan, Yang Xinyi, Li Xuanyi, Chen Jinghong, Wu Shiyu, Hou Sheng-Tao
Brain Research Centre, Department of Neurobiology, School of Life Sciences, Southern University of Science and Technology, Nanshan District, Shenzhen, Guangdong 1088, People's Republic of China.
Proc Natl Acad Sci U S A. 2025 Apr 22;122(16):e2411080122. doi: 10.1073/pnas.2411080122. Epub 2025 Apr 16.
Various pathological characteristics of autism spectrum disorder (ASD) stem from abnormalities in brain resident immune cells, specifically microglia, to prune unnecessary synapses or neural connections during early development. Animal models of ASD exhibit an abundance of synapses in different brain regions, which is strongly linked to the appearance of ASD behaviors. Overexpression of CD47 on neurons acts as a "don't eat me" signal, safeguarding synapses from inappropriate pruning by microglia. Indeed, CD47 overexpression occurs in 16p11.2 deletion carriers, causing decreased synaptic phagocytosis and the manifestation of ASD characteristics. However, the role of CD47 in synaptic pruning impairment leading to ASD phenotypes in the 16p11.2 deletion mouse model is unclear. Moreover, whether blocking CD47 can alleviate ASD mice's behavioral deficits remains unknown. Here, we demonstrate a strong link between increased CD47 expression, decreased microglia phagocytosis capacity, and increased impairment in social novelty preference in the 16p11.2 deletion mice. The reduction in microglia phagocytosis caused a rise in excitatory synapses and transmission in the prefrontal cortex of 16p11.2 deletion mice. Importantly, blocking CD47 using a specific CD47 antibody or reducing CD47 expression using a specific short hairpin RNA (shRNA) enhanced the microglia phagocytosis and reduced excitatory transmission. Reduction in CD47 expression improved social novelty preference deficits in 16p11.2 mice. These findings demonstrate that CD47 is associated with the ASD phenotypes in the 16p11.2 deletion mice and could be a promising target for the development of treatment for ASD.
自闭症谱系障碍(ASD)的各种病理特征源于脑内驻留免疫细胞(特别是小胶质细胞)的异常,这些细胞在早期发育过程中负责修剪不必要的突触或神经连接。ASD动物模型在不同脑区表现出大量突触,这与ASD行为的出现密切相关。神经元上CD47的过表达充当“别吃我”信号,保护突触不被小胶质细胞不恰当地修剪。事实上,16p11.2缺失携带者中会出现CD47过表达,导致突触吞噬作用降低以及ASD特征的显现。然而,在16p11.2缺失小鼠模型中,CD47在导致ASD表型的突触修剪损伤中的作用尚不清楚。此外,阻断CD47是否能减轻ASD小鼠的行为缺陷仍不明确。在此,我们证明了16p11.2缺失小鼠中CD47表达增加、小胶质细胞吞噬能力降低与社交新奇偏好受损增加之间存在紧密联系。小胶质细胞吞噬作用的降低导致16p11.2缺失小鼠前额叶皮质中兴奋性突触和传递增加。重要的是,使用特异性CD47抗体阻断CD47或使用特异性短发夹RNA(shRNA)降低CD47表达可增强小胶质细胞吞噬作用并减少兴奋性传递。降低CD47表达改善了16p11.2小鼠的社交新奇偏好缺陷。这些发现表明,CD47与16p11.2缺失小鼠的ASD表型相关,可能是开发ASD治疗方法的一个有前景的靶点。