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Abstract：
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and a monogenic cause of autism spectrum disorders. Deficiencies in the fragile X messenger ribonucleoprotein, encoded by the FMR1 gene, lead to various anatomical and pathophysiological abnormalities and behavioral deficits, such as spine dysmorphogenesis and learning and memory impairments. Synaptic cell adhesion molecules (CAMs) play crucial roles in synapse formation and neural signal transmission by promoting the formation of new synaptic contacts, accurately organizing presynaptic and postsynaptic protein complexes, and ensuring the accuracy of signal transmission. Recent studies have implicated synaptic CAMs such as the immunoglobulin superfamily, N-cadherin, leucine-rich repeat proteins, and neuroligin-1 in the pathogenesis of FXS and found that they contribute to defects in dendritic spines and synaptic plasticity in FXS animal models. This review systematically summarizes the biological associations between nine representative synaptic CAMs and FMRP, as well as the functional consequences of the interaction, to provide new insights into the mechanisms of abnormal synaptic development in FXS.
摘要：
脆性X综合征（FXS）是遗传性智力障碍的最常见形式，也是自闭症谱系障碍的单基因原因。脆性X信使核糖核蛋白的缺陷，由FMR1基因编码，导致各种解剖和病理生理异常和行为缺陷，如脊柱畸形和学习记忆障碍。突触细胞粘附分子(CAMs)通过促进新的突触接触的形成,在突触形成和神经信号传递中起着至关重要的作用,准确组织突触前和突触后蛋白复合物，保证信号传输的准确性。最近的研究涉及突触CAM，如免疫球蛋白超家族，N-钙黏着蛋白,富含亮氨酸的重复蛋白，和neuroligin-1在FXS的发病机理中，发现它们有助于FXS动物模型中树突棘和突触可塑性的缺陷。本文系统地总结了9种具有代表性的突触CAMs与FMRP的生物学关系。以及相互作用的功能后果，为FXS中异常突触发育的机制提供新的见解。
