National Centre for Biological Sciences, TIFR, Bangalore 560065, India.
National Centre for Biological Sciences, TIFR, Bangalore 560065, India; Centre for Brain Development and Repair, Institute for Stem Cell Biology and Regenerative Medicine, Bangalore 560065, India.
Cell Rep. 2021 Oct 12;37(2):109805. doi: 10.1016/j.celrep.2021.109805.
Fragile X syndrome (FXS), a commonly inherited form of autism and intellectual disability, is associated with emotional symptoms that implicate dysfunction of the amygdala. However, current understanding of the pathogenesis of the disease is based primarily on studies in the hippocampus and neocortex, where FXS defects have been corrected by inhibiting group I metabotropic glutamate receptors (mGluRs). Here, we observe that activation, rather than inhibition, of mGluRs in the basolateral amygdala reverses impairments in a rat model of FXS. FXS rats exhibit deficient recall of auditory conditioned fear, which is accompanied by a range of in vitro and in vivo deficits in synaptic transmission and plasticity. We find presynaptic mGluR5 in the amygdala, activation of which reverses deficient synaptic transmission and plasticity, thereby restoring normal fear learning in FXS rats. This highlights the importance of modifying the prevailing mGluR-based framework for therapeutic strategies to include circuit-specific differences in FXS pathophysiology.
脆性 X 综合征(FXS)是一种常见的自闭症和智力残疾的遗传形式,与杏仁核功能障碍有关的情绪症状有关。然而,目前对疾病发病机制的理解主要基于海马体和新皮层的研究,在这些部位,通过抑制 I 型代谢型谷氨酸受体(mGluRs)可以纠正 FXS 缺陷。在这里,我们观察到,在基底外侧杏仁核中激活 mGluRs,而不是抑制 mGluRs,可逆转 FXS 大鼠模型中的损伤。FXS 大鼠表现出听觉条件性恐惧记忆缺失,这伴随着一系列体外和体内突触传递和可塑性缺陷。我们发现杏仁核中的突触前 mGluR5,其激活可逆转突触传递和可塑性缺陷,从而恢复 FXS 大鼠的正常恐惧学习。这强调了改变当前基于 mGluR 的治疗策略框架的重要性,以包括 FXS 病理生理学中的特定回路差异。