Autism spectrum disorder is a neurodevelopmental disease. There is no definite conclusion about the pathogenesis of this disorder. According to many clinical case analyses and animal model studies, a large number of genes and signaling pathways are testified to be related to autism, in which the role of hereditary factor in pathogenesis is gradually recognized. Wnt /β-catenin signaling pathway is an important pathway to control the division and differentiation of neurons, and the abnormal expression of this pathway has been detected in many people with autism, including abnormalities in the internal components of the pathway or mutations outside the pathway that indirectly alter the components in the pathway and then lead to the occurrence of the disease. Variations of Wnt/β-catenin signaling pathway can cause abnormal proliferation of neurons, changes of exciting/inhibitory synapses balance, synaptic transmissions and so on.%孤独症谱系障碍是一种神经发育性疾病,其发病机制尚无定论.临床病例分析和动物模型研究表明,大量基因和信号通路与孤独症相关,遗传因素在发病中的作用逐渐被认可.Wnt/β联蛋白(β-catenin)信号通路是控制神经元分裂与分化的重要通路,该通路的异常表达在许多孤独症患者中被检测到,包括通路内部成分发生的异常或通路外的突变间接地改变通路中的成分而导致疾病的发生.Wnt/β-catenin信号通路变异可导致神经元增殖异常,兴奋/抑制性突触数目平衡和突触间冲动传递改变等.
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