The epigenetic mechanism of synaptic molecules in autism

Rett综合征是一种儿童自闭症，被认为是MeCP2的致病蛋白。我们推测这一综合征的症状与突触形成相关的基因失调有关。我们鉴定出MALS-1基因是一个受MeCP2调控的新基因。与野生型相比，MeCP2-KO小鼠大脑皮层MALS-1蛋白表达降低。神经母细胞瘤细胞Neuro2A的siRNA-MeCP2也显示出MALS-1mRNA的表达降低。MeCP2是参与MALS-1的基因的DNA甲基化，与以前的报告不同的是，有人认为MeCP2通过这种蛋白的表达而增强。提示MALS-1与突触形成的异常表达有关。

Rett syndrome, one of the childhood autism, is identified MeCP2 as responsible protein. We assumed the dysregulation of genes involved in synapse formation of symptom in this syndrome. We identified MALS-1 gene is a new gene regulated by MeCP2. In the cerebral cortex of MeCP2-KO mice, MALS-1 protein expression was decreased compared to wild type. Neuro2A, a neuroblastoma cells, the siRNA-MeCP2 also showed the decrease of expression of MALS-1 mRNA. MeCP2 is a DNA methylation of genes that contribute to MALS-1, unlike previous reports it was suggested that MeCP2 is enhanced by this protein expression. Therefore, the symptom of autism in Rett syndrome is suggested that the MALS-1 related to the abnormal expression of synapse formation by a decline.