Imaging-genetics in autism spectrum disorder: advances, translational impact, and future directions.
Imaging-genetics in autism spectrum disorder: advances, translational impact, and future directions.
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DOI：
10.3389/fpsyt.2012.00046
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发表时间：
2012
影响因子：
4.7
通讯作者：
Szatmari P
中科院分区：
文献类型：
--
作者：
Ameis SH;Szatmari P
自闭症谱系障碍（ASD）是指一组异质性神经发育障碍，这些障碍由相互社会沟通障碍和僵化行为模式统一而成。最近的遗传学进展已经解决了一些复杂的遗传结构的基础ASD通过确定几个遗传变异，有助于疾病。与ASD相关的不同病因学途径可能通过对共同分子机制的影响而会聚，例如突触发生、神经元运动和轴突引导。最近，随着更复杂的技术，神经影像学和神经病理学研究提供了一些一致的证据，表明与典型的发育儿童相比，ASD中存在复杂神经网络内的结构，活动和连接性改变。成像遗传学方法有望帮助弥合遗传变异、对大脑的生物学效应和复杂神经精神症状的产生之间的差距。在这里，我们回顾了最近的研究结果，从发展中的成像遗传学领域应用于ASD。迄今为止的研究表明，相关的风险基因与介导社会情感，视觉空间和语言处理的回路的改变有关。纵向研究理想地集中在早期发展，结合对基因-基因和基因-环境相互作用的调查，可能会使ASD的成像遗传学的前景更接近临床领域。
Autism Spectrum Disorder (ASD) refers to a group of heterogeneous neurodevelopmental disorders that are unified by impairments in reciprocal social communication and a pattern of inflexible behaviors. Recent genetic advances have resolved some of the complexity of the genetic architecture underlying ASD by identifying several genetic variants that contribute to the disorder. Different etiological pathways associated with ASD may converge through effects on common molecular mechanisms, such as synaptogenesis, neuronal motility, and axonal guidance. Recently, with more sophisticated techniques, neuroimaging, and neuropathological studies have provided some consistency of evidence that altered structure, activity, and connectivity within complex neural networks is present in ASD, compared to typically developing children. The imaging-genetics approach promises to help bridge the gap between genetic variation, resultant biological effects on the brain, and production of complex neuropsychiatric symptoms. Here, we review recent findings from the developing field of imaging-genetics applied to ASD. Studies to date have indicated that relevant risk genes are associated with alterations in circuits that mediate socio-emotional, visuo-spatial, and language processing. Longitudinal studies ideally focused on early development, in conjunction with investigation for gene–gene, and gene–environment interactions may move the promise of imaging-genetics in ASD closer to the clinical domain.