Wang Miao, Li Huiping, Takumi Toru, Qiu Zilong, Xu Xiu, Yu Xiang, Bian Wen-Jie
Institute of Neuroscience, State Key Laboratory of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, 200031, China.
University of Chinese Academy of Sciences, Beijing, 100049, China.
Neurosci Bull. 2017 Apr;33(2):143-152. doi: 10.1007/s12264-017-0111-8. Epub 2017 Mar 3.
Autism spectrum disorder (ASD) encompasses a complex set of developmental neurological disorders, characterized by deficits in social communication and excessive repetitive behaviors. In recent years, ASD is increasingly being considered as a disease of the synapse. One main type of genetic aberration leading to ASD is gene duplication, and several mouse models have been generated mimicking these mutations. Here, we studied the effects of MECP2 duplication and human chromosome 15q11-13 duplication on synaptic development and neural circuit wiring in the mouse sensory cortices. We showed that mice carrying MECP2 duplication had specific defects in spine pruning, while the 15q11-13 duplication mouse model had impaired spine formation. Our results demonstrate that spine pathology varies significantly between autism models and that distinct aspects of neural circuit development may be targeted in different ASD mutations. Our results further underscore the importance of gene dosage in normal development and function of the brain.
自闭症谱系障碍(ASD)包含一系列复杂的发育性神经障碍,其特征为社交沟通缺陷和过度重复行为。近年来,ASD越来越被视为一种突触疾病。导致ASD的一种主要遗传畸变类型是基因重复,并且已经构建了几种模拟这些突变的小鼠模型。在此,我们研究了MECP2重复和人类染色体15q11 - 13重复对小鼠感觉皮层突触发育和神经回路布线的影响。我们发现携带MECP2重复的小鼠在棘突修剪方面存在特定缺陷,而15q11 - 13重复小鼠模型的棘突形成受损。我们的结果表明,自闭症模型之间的棘突病理学差异显著,并且不同的ASD突变可能针对神经回路发育的不同方面。我们的结果进一步强调了基因剂量在大脑正常发育和功能中的重要性。