突触后致密物基因与孤独症

孤独症是一种病因不明的广泛性发育障碍疾病,它是孤独症谱系障碍的代表疾病,发病年龄早,大多在3岁以内起病,以社会交往障碍,言语交流障碍,动作行为的重复刻板和兴趣范围狭窄为三大临床核心症状。孤独症发病率呈逐年增高趋势,我国患者量已超过一百万。但是迄今为止仍没有特异的方法与手段对孤独症进行彻底有效地诊治,为社会和家庭带来了沉重的负担,因此,其发病机制是迫切需要研究的难题。目前国际上公认为遗传因素在孤独症的发病中起着重要作用,但对于致病基因的确定仍不明确。突触后致密物(PSD)在中枢神经系统神经递质和信息的传递过程中起重要作用,影响学习记忆及认知相关功能,而孤独症患者存在认知相关功能损伤的表现,二者可能存在一定的联系。本文对PSD基因功能以及与孤独症关系的研究加以综述,希望有助于孤独症的病因学研究,以期早日改善该病的诊疗及预防。

The Relationship between Postsynaptic Dense Gene and Autism

Autism is a pervasive developmental disorder with an unknown etiology. It is the representative of autism spectrum disorders and the onset within 3 years old. The three prominent characteristic areas of malfunction of are impairments in social interaction, impairments in verbal communication and restricted repetitive and stereotyped patterns of behavior, interests and activities. Autism has an increasing incidence, and the number of autism patients has already been more than one million in China. But now there is no specific way to cure autism and it is a heavy burden for the society and family. So its pathogenesis is an urgent need to study. However, most researchers in the world has generally accepted that there is strong evidence for genetic components in the development of idiopath- ic autism. But the role of gene in the pathogenesis of autism remains unclear. The PSD plays an important role in the transmission of neural information. It affects learning, memory and cognitive function. It may have a certain relationship with autism. The function of PSD and previous studies of PSD gene and autism will be reviewed in the article. It may be helpful to provide clues to the etiology re- search.