Laboratory of Neuropathology and Neuroscience, Graduate School of Pharmaceutical Sciences, The University of Tokyo, Tokyo, Japan.
Neuroscience 2, Laboratory for Drug Discovery and Disease Research, Shionogi & Co. Ltd, Osaka, Japan.
Transl Psychiatry. 2024 Oct 23;14(1):448. doi: 10.1038/s41398-024-03167-5.
Autism Spectrum Disorder (ASD) is a developmental disorder characterized by impaired social communication and repetitive behaviors. In recent years, a pharmacological mouse model of ASD involving maternal administration of valproic acid (VPA) has become widely used. Newborn pups in this model show an abnormal balance between excitatory and inhibitory (E/I) signaling in neurons and exhibit ASD-like behavior. However, the molecular basis of this model and its implications for the pathogenesis of ASD in humans remain unknown. Using quantitative secretome analysis, we found that the level of leucine-rich repeat and immunoglobulin domain-containing protein 2 (Lingo2) was upregulated in the conditioned medium of VPA model neurons. This upregulation was associated with excitatory synaptic organizer activity. The secreted form of the extracellular domain of Lingo2 (sLingo2) is produced by the transmembrane metalloprotease ADAM10 through proteolytic processing. sLingo2 was found to induce the formation of excitatory synapses in both mouse and human neurons, and treatment with sLingo2 resulted in an increased frequency of miniature excitatory postsynaptic currents in human neurons. These findings suggest that sLingo2 is an excitatory synapse organizer involved in ASD, and further understanding of the mechanisms by which sLingo2 induces excitatory synaptogenesis is expected to advance our understanding of the pathogenesis of ASD.
自闭症谱系障碍(ASD)是一种以社交沟通障碍和重复行为为特征的发育障碍。近年来,一种涉及母体给予丙戊酸(VPA)的 ASD 药理学小鼠模型已被广泛应用。该模型中的新生幼鼠表现出神经元中兴奋性和抑制性(E/I)信号之间的异常平衡,并表现出类似 ASD 的行为。然而,该模型的分子基础及其对人类 ASD 发病机制的影响仍不清楚。通过定量分泌组分析,我们发现 VPA 模型神经元条件培养基中富含亮氨酸重复和免疫球蛋白结构域蛋白 2(Lingo2)的水平上调。这种上调与兴奋性突触组织器活性有关。Lingo2 的细胞外结构域的分泌形式(sLingo2)通过跨膜金属蛋白酶 ADAM10 的蛋白水解加工产生。发现 sLingo2 可诱导小鼠和人类神经元中兴奋性突触的形成,并且 sLingo2 的处理导致人类神经元中微小兴奋性突触后电流的频率增加。这些发现表明 sLingo2 是一种参与 ASD 的兴奋性突触组织器,进一步了解 sLingo2 诱导兴奋性突触发生的机制有望增进我们对 ASD 发病机制的理解。