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脆性X智力障碍的代谢型谷氨酸受体理论。

The mGluR theory of fragile X mental retardation.

作者信息

Bear Mark F, Huber Kimberly M, Warren Stephen T

机构信息

The Picower Center for Learning and Memory, Howard Hughes Medical Institute and Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.

出版信息

Trends Neurosci. 2004 Jul;27(7):370-7. doi: 10.1016/j.tins.2004.04.009.

Abstract

Many of the diverse functional consequences of activating group 1 metabotropic glutamate receptors require translation of pre-existing mRNA near synapses. One of these consequences is long-term depression (LTD) of transmission at hippocampal synapses. Loss of fragile X mental retardation protein (FMRP), the defect responsible for fragile X syndrome in humans, increases LTD in mouse hippocampus. This finding is consistent with the growing evidence that FMRP normally functions as a repressor of translation of specific mRNAs. Here we present a theory that can account for diverse neurological and psychiatric aspects of fragile X syndrome, based on the assumption that many of the protein-synthesis-dependent functions of metabotropic receptors are exaggerated in fragile X syndrome. The theory suggests new directions for basic research as well as novel therapeutic approaches for the treatment of humans with fragile X, the most frequent inherited cause of mental retardation and an identified cause of autism.

摘要

激活第1组代谢型谷氨酸受体所产生的多种不同功能后果,很多都需要在突触附近对已有的信使核糖核酸进行翻译。其中一个后果是海马体突触传递的长时程抑制(LTD)。脆性X智力低下蛋白(FMRP)缺失是人类脆性X综合征的病因,它会增加小鼠海马体中的长时程抑制。这一发现与越来越多的证据相符,即FMRP通常作为特定信使核糖核酸翻译的抑制因子发挥作用。在此,我们提出一种理论,该理论基于这样的假设:代谢型受体的许多依赖蛋白质合成的功能在脆性X综合征中被夸大,从而可以解释脆性X综合征在神经学和精神病学方面的多种表现。该理论为基础研究指明了新方向,也为治疗脆性X患者提出了新的治疗方法,脆性X是智力低下最常见的遗传性病因,也是已确定的自闭症病因。

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