CBG-Department of Clinical Genetics, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands.
Neurobiol Learn Mem. 2011 May;95(4):467-72. doi: 10.1016/j.nlm.2011.02.009. Epub 2011 Mar 1.
Fragile X syndrome (FXS) is the most common inherited form of mental retardation and is caused by the lack of fragile X mental retardation protein (FMRP). In the brain, spine abnormalities have been reported in both patients with FXS and Fmr1 knockout mice. This altered spine morphology has been linked to disturbed synaptic transmission related to altered signaling in the excitatory metabotropic glutamate receptor 5 (mGluR5) pathway. We investigated hippocampal protrusion morphology in adult Fmr1 knockout mice. Our results show a hippocampal CA1-specific altered protrusion phenotype, which was absent in the CA3 region of the hippocampus. This suggests a subregion-specific function of FMRP in synaptic plasticity in the brain.
脆性 X 综合征 (FXS) 是最常见的遗传性智力障碍，由脆性 X 智力低下蛋白 (FMRP) 缺失引起。在大脑中，脆性 X 综合征患者和 Fmr1 基因敲除小鼠均出现脊柱异常。这种改变的脊柱形态与兴奋性代谢型谷氨酸受体 5 (mGluR5) 通路中信号改变相关的突触传递紊乱有关。我们研究了成年 Fmr1 基因敲除小鼠的海马突触及形态。结果显示海马 CA1 区存在特定的突起表型改变，而海马 CA3 区无此改变。这提示 FMRP 在大脑中的突触可塑性中具有亚区特异性功能。
