UBE3A与孤独症谱系障碍病因的相关性研究进展

Research progress on the relationship between UBE3A and etiology of autism spectrum disorder

孤独症谱系障碍(ASD)是一种神经发育障碍性疾病,以社交障碍、限制性刻板行为和兴趣狭窄为核心症状。目前,ASD患病率高达1/59,但病因尚不明确。近年来,相关研究发现UBE3A的过度表达会改变突触功能和可塑性,使UBE3A成为易患ASD的重要候选基因。为进一步系统全面地探索及实践这一新发现,根据相关文献总结UBE3A的关键作用机制,与ASD的直接、间接的相关性,展望未来治疗趋势,为今后的ASD病因研究提供思路。

Autism spectrum disorder(ASD) is a widespread neurodevelopmental disorder that occurs in early childhood. Its two core symptoms are social communication and social communication defects as well as restrictive repetitive behaviors, interests and activities. At present, the prevalence of ASD is as high as 1/59, but its cause is still unknown. In recent years, studies have found that overexpression of UBE3 A changes synaptic function and plasticity, making UBE3 A an important candidate gene for ASD. In order to further systematically explore and practice this new discovery comprehensively, this paper summarizes the key mechanism of UBE3 A, its indirect and direct correlation with ASD, and the prospect of future treatment trends. Most improtantly, the paper aims at bringing some new ideas and references for the future research, prevention, diagnosis and treatment of ASD etiology.