Institute of Biomedicine/Physiology, University of Helsinki, P.O. Box 63, FIN-00014 Helsinki, Finland; Rinnekoti Foundation, Rinnekodintie 10, FIN-02980 Espoo, Finland.
Neuropharmacology. 2014 Jan;76 Pt C:729-36. doi: 10.1016/j.neuropharm.2013.05.018. Epub 2013 May 29.
Fragile X syndrome (FXS) is a monogenic disorder that is caused by the absence of FMR1 protein (FMRP). FXS serves as an excellent model disorder for studies investigating disturbed molecular mechanisms and synapse function underlying cognitive impairment, autism, and behavioral disturbance. Abnormalities in dendritic spines and synaptic transmission in the brain of FXS individuals and mouse models for FXS indicate perturbations in the development, maintenance, and plasticity of neuronal network connectivity. However, numerous alterations are found during the early development in FXS, including abnormal differentiation of neural progenitors and impaired migration of newly born neurons. Several aspects of FMRP function are modulated by brain-derived neurotrophic factor (BDNF) signaling. Here, we review the evidence of the role for BDNF in the developing and adult FXS brain. This article is part of the Special Issue entitled 'BDNF Regulation of Synaptic Structure, Function, and Plasticity'.
脆性 X 综合征（FXS）是一种由 FMR1 蛋白（FMRP）缺失引起的单基因疾病。FXS 是研究认知障碍、自闭症和行为障碍的分子机制和突触功能紊乱的理想模型疾病。FXS 个体和 FXS 小鼠模型大脑中的树突棘和突触传递异常表明神经元网络连接的发育、维持和可塑性受到干扰。然而，在 FXS 中早期发育过程中发现了许多改变，包括神经祖细胞的异常分化和新生神经元迁移受损。脑源性神经营养因子（BDNF）信号调节 FMRP 的几个功能方面。在这里，我们综述了 BDNF 在发育中和成年 FXS 大脑中的作用的证据。本文是专题“BDNF 调节突触结构、功能和可塑性”的一部分。
