Pathological plasticity in fragile X syndrome.
Pathological plasticity in fragile X syndrome.
复制标题
脆性 X 综合征的病理可塑性。
DOI：
10.1155/2012/275630
复制
发表时间：
2012
影响因子：
3.1
通讯作者：
Huntsman,MollyM
中科院分区：
文献类型：
--
作者：
Martin,BrandonS;Huntsman,MollyM
神经元可塑性缺陷是许多神经发育障碍的共同标志。在脆性X综合征（FXS）的情况下，单个基因FMR1功能的破坏会导致各种神经系统后果，这些后果与可塑性神经元网络的发育、维持和能力问题直接相关。在本文中，我们讨论了当前的研究，说明了FXS可塑性缺陷的机制。这些过程包括突触、细胞内禀和稳态机制，它们既依赖于也独立于异常的代谢谷氨酸受体传递。我们特别强调，在FXS患者中，已识别的缺陷如何在发育关键时期发挥作用，导致神经元网络对学习、记忆和认知中心活动变化的动态响应能力永久性下降。表征可塑性的早期发育缺陷是开发治疗方法的基础，不仅治疗症状，而且最大限度地减少疾病的发育病理学。
Deficits in neuronal plasticity are common hallmarks of many neurodevelopmental disorders. In the case of fragile‐X syndrome (FXS), disruption in the function of a single gene,FMR1, results in a variety of neurological consequences directly related to problems with the development, maintenance, and capacity of plastic neuronal networks. In this paper, we discuss current research illustrating the mechanisms underlying plasticity deficits in FXS. These processes include synaptic, cell intrinsic, and homeostatic mechanisms both dependent on and independent of abnormal metabotropic glutamate receptor transmission. We place particular emphasis on how identified deficits may play a role in developmental critical periods to produce neuronal networks with permanently decreased capacity to dynamically respond to changes in activity central to learning, memory, and cognition in patients with FXS. Characterizing early developmental deficits in plasticity is fundamental to develop therapies that not only treat symptoms but also minimize the developmental pathology of the disease.