受环境因素影响的DNA甲基化在孤独谱系障碍病因学中的研究进展

Research progress on the etiology of DNA methylation affected by the environmental factors in autism spectrum disorder

孤独谱系障碍(ASD)是以社会沟通、交往和兴趣行为等表现偏离正常为共同特点的一组神经发育性障碍的统称.目前对儿童ASD的治疗方法和效果有限,且预后较差.ASD患儿如果没有得到有效的干预和治疗,不仅会严重影响患儿的身心健康,也会对其家庭和社会造成巨大的负担.近些年表观遗传学迅速进展,尤其是对DNA甲基化领域研究的逐步深入,已经确定DNA甲基化是ASD产生的重要原因之一.找到ASD异常的DNA甲基化基因和位点,明确ASD的DNA甲基化的分子生物学机制及其影响因素(尤其是环境因素)可以为ASD的病因学研究提供帮助,并对ASD的预防和治疗提供宝贵的资料.

Autism spectrumdisorder （ASD） is a general term for a group of neurodevelopmental disorders characterized by deviation from normal in social communication, interaction and interest behavior and so on. At present, the treatment and effect for ASD on children is limitted and the prognosis is poor, those children who suffered from ASD fail to get effective intervention and treat- ment, not only will their physical and mental health be seriously affected, but also huge burden will he imposed on their family as well as society. A rapid progress on epigenetics has been made in recent years, especially the deepening research on DNA methyla- tion, which has identified that DNA methylation is an important reason for ASD production. It will provide help for the study of etiology of ASD and provide valuable information for the preven- tion and treatment of ASD if the DNA methylation genes and loci of ASD abnormalities are found and the molecular biological mechanism of DNA methylation of ASD and its influencing factors （especially environmental factors） are identified.