Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome
Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome
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DOI：
10.1113/jphysiol.2008.150722
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发表时间：
2008-03-15
影响因子：
5.5
通讯作者：
Bear, Mark F.
中科院分区：
文献类型：
--
作者：
Dolen, Gul;Bear, Mark F.
代谢型谷氨酸受体（mGluRs）参与多种多样的神经元功能。本文综述的研究表明，通过mGluR5夸大信号可以解释脆性X综合征的多种认知和综合征特征，脆性X综合征是智力低下和自闭症最常见的遗传形式。由于mGluR5信号传导的减少可以逆转脆性X表型，这些研究为使用mGluR5拮抗剂治疗脆性X和相关疾病提供了令人信服的理由。
Metabotropic glutamate receptors (mGluRs) have been implicated in a diverse variety of neuronal functions. Studies reviewed here indicate that exaggerated signalling through mGluR5 can account for multiple cognitive and syndromic features of fragile X syndrome, the most common inherited form of mental retardation and autism. Since a reduction of mGluR5 signalling can reverse fragile X phenotypes, these studies provide a compelling rationale for the use of mGluR5 antagonists for the treatment of fragile X and related disorders.