Voineagu Irina, Eapen Valsamma
School of Biotechnology and Biomolecular Sciences, University of New South Wales , Sydney, NSW , Australia.
Front Hum Neurosci. 2013 Nov 7;7:738. doi: 10.3389/fnhum.2013.00738.
Autism spectrum disorders (ASD) are highly heritable, yet genetically heterogeneous neurodevelopmental conditions. Recent genome-wide association and gene expression studies have provided evidence supporting the notion that the large number of genetic variants associated with ASD converge toward a core set of dysregulated biological processes. Here we review recent data demonstrating the involvement of synaptic dysfunction and abnormal immune responses in ASD, and discuss the functional interplay between the two phenomena.
自闭症谱系障碍(ASD)是具有高度遗传性但基因异质性的神经发育疾病。近期的全基因组关联研究和基因表达研究提供了证据,支持与ASD相关的大量遗传变异趋向于一组核心失调生物学过程的观点。在此,我们综述了近期的数据,这些数据表明突触功能障碍和异常免疫反应与ASD有关,并讨论了这两种现象之间的功能相互作用。