自闭症谱系障碍模型小鼠：关注拷贝数变异与表观遗传学。

Autism spectrum disorder model mice: Focus on copy number variation and epigenetics.

作者信息

Nakai Nobuhiro, Otsuka Susumu, Myung Jihwan, Takumi Toru

机构信息

Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima, 734-8553, Japan.

Graduate School of Biostudies, Kyoto University, Kyoto, 606-8501, Japan.

出版信息

Sci China Life Sci. 2015 Oct;58(10):976-84. doi: 10.1007/s11427-015-4891-7.

DOI:10.1007/s11427-015-4891-7

PMID:26335737

Abstract

Autism spectrum disorder (ASD) is gathering concerns in socially developed countries. ASD is a neuropsychiatric disorder of genetic origin with high prevalence of 1%-2%. The patients with ASD characteristically show impaired social skills. Today, many genetic studies identify numerous susceptible genes and genetic loci associated with ASD. Although some genetic factors can lead to abnormal brain function linked to ASD phenotypes, the pathogenic mechanism of ASD is still unclear. Here, we discuss a new mouse model for ASD as an advanced tool to understand the mechanism of ASD.

摘要

自闭症谱系障碍（ASD）在社会发达国家正日益受到关注。ASD是一种起源于遗传的神经精神疾病，患病率高达1%-2%。ASD患者的典型特征是社交技能受损。如今，许多基因研究已经确定了众多与ASD相关的易感基因和基因位点。尽管一些遗传因素可导致与ASD表型相关的脑功能异常，但ASD的致病机制仍不清楚。在此，我们讨论一种用于ASD研究的新型小鼠模型，它是理解ASD机制的一种先进工具。