孤独症谱系障碍的相关遗传学机制研究进展

Research progress of genetic mechanisms in autism spectrum disorder

孤独症谱系障碍(ASD)是一组高异质性的神经发育性障碍,遗传因素对发病起了重要作用,解释了25%~35%患儿的发病原因,但遗传学机制还不清楚。分子遗传学研究发现ASD存在常见和罕见拷贝数或单核苷酸变异体,突变基因编码蛋白质影响早期大脑发育,干扰神经元间的连接、突触形成以及功能,可能是其病理学机制。

Autism spectrum disorder(ASD)is a group of highly heterogeneous neurodevelopmental disorders.Genetic factor plays an important role in the pathogenesis,explaining the pathogeny in 25%-35%of children,however,the genetic mechanism is still unclear.Molecular genetics studies have found common and rare copy number or single nucleotide variants in ASD.Mutated genes encoded proteins affect early brain development and interfere with neuronal connections,synaptic formation and function,which may be its pathological mechanism.