Department of Pharmacology and Warren Center for Neuroscience Drug Discovery, Vanderbilt University, Nashville, TN 37212, United States of America.
Department of Pharmacology and Warren Center for Neuroscience Drug Discovery, Vanderbilt University, Nashville, TN 37212, United States of America; Vanderbilt Institute of Chemical Biology, Vanderbilt University, Nashville, TN 37212, United States of America; Vanderbilt Brain Institute, Vanderbilt University, Nashville, TN 37212, United States of America; Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN 37232, United States of America.
Pharmacol Biochem Behav. 2023 Apr;225:173546. doi: 10.1016/j.pbb.2023.173546. Epub 2023 Mar 30.
The metabotropic glutamate receptor 7 (mGlu), encoded by the GRM7 gene in humans, is a presynaptic, G protein-coupled glutamate receptor that is essential for modulating neurotransmission. Mutations in or reduced expression of GRM7 have been identified in different genetic neurodevelopmental disorders (NDDs), and rare biallelic missense variants have been proposed to underlie a subset of NDDs. Clinical GRM7 variants have been associated with a range of symptoms consistent with neurodevelopmental molecular features, including hypomyelination, brain atrophy and defects in axon outgrowth. Here, we review the newest findings regarding the cellular and molecular defects caused by GRM7 variants in NDD patients.
代谢型谷氨酸受体 7（mGluR7），又称 GRM7 基因，在人类中编码，是一种位于突触前的 G 蛋白偶联谷氨酸受体，对于调节神经递质传递至关重要。GRM7 基因突变或表达减少已在多种遗传性神经发育障碍（NDD）中被发现，而罕见的双等位基因错义变异被认为是部分 NDD 的致病原因。GRM7 临床变异与一系列与神经发育分子特征一致的症状相关，包括少突胶质细胞发育不全、脑萎缩和轴突生长缺陷。在此，我们综述了最新的研究结果，即 GRM7 变异在 NDD 患者中引起的细胞和分子缺陷。
