Department of Psychiatry, Nina Ireland Laboratory of Developmental Neurobiology, University of California at San Francisco, San Francisco, California, USA.
Curr Opin Neurol. 2010 Apr;23(2):118-23. doi: 10.1097/WCO.0b013e328336eb13.
Molecular and genetic insights into the etiology of autism spectrum disorders are now available. The field now needs to understand how these perturbations affect development and function of the brain.
Herein I review the genetic mechanisms known to predispose to autism spectrum disorders, and attempt to consolidate many of these within cellular/molecular pathways that regulate development of neural systems that underlie cognition and social behaviors. In addition to the clear relationship of many susceptibility genes to activity-dependent neural responses, I propose the existence of three additional mechanisms that may contribute to autism spectrum disorders: evolutionary-driven expansion of cerebrum and cerebellar size; imbalance in the excitatory/inhibitory ratio in local and extended circuits; the hormonal effects of the male genotype.
Understanding these mechanisms opens the possibility to therapeutic interventions.
目前已经有关于自闭症谱系障碍病因的分子和遗传学方面的研究。现在的领域需要了解这些干扰因素是如何影响大脑的发育和功能的。
本文综述了已知易患自闭症谱系障碍的遗传机制，并试图将其中许多机制整合到调节认知和社会行为的神经发育的细胞/分子途径中。除了许多易感基因与活性依赖的神经反应的明确关系外，我还提出了另外三种可能导致自闭症谱系障碍的机制：大脑和小脑大小的进化驱动扩张；局部和扩展回路中兴奋/抑制比失衡；男性基因型的激素作用。
理解这些机制为治疗干预提供了可能性。
