Fragile X syndrome and autism at the intersection of genetic and neural networks
Fragile X syndrome and autism at the intersection of genetic and neural networks
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DOI：
10.1038/nn1765
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发表时间：
2006-10-01
影响因子：
25
通讯作者：
Bourgeron, Thomas
中科院分区：
文献类型：
--
作者：
Belmonte, Matthew K.;Bourgeron, Thomas
自闭症是一种完全行为诊断，没有很大程度上了解的病因，也没有人群范围的生物标志物，与脆性X综合征（FXS）形成对比，FXS是一种单基因疾病，具有明确的基因表达和神经元形态改变。然而，自闭症和FXS之间的行为重叠表明了一些重叠的机制。了解FXS中的单基因改变如何在复杂的遗传和神经网络过程中发挥作用，可能会为自闭症研究提供目标，并说明将自闭症与更单一的遗传综合征联系起来的策略。
Autism, an entirely behavioral diagnosis with no largely understood etiologies and no population-wide biomarkers, contrasts with fragile X syndrome (FXS), a single-gene disorder with definite alterations of gene expression and neuronal morphology. Nevertheless, the behavioral overlap between autism and FXS suggests some overlapping mechanisms. Understanding how the single-gene alteration in FXS plays out within complex genetic and neural network processes may suggest targets for autism research and illustrate strategies for relating autism to more singular genetic syndromes.