NMDA receptor subunit mutations in neurodevelopmental disorders
NMDA receptor subunit mutations in neurodevelopmental disorders
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DOI：
10.1016/j.coph.2014.11.008
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发表时间：
2015-02-01
影响因子：
4
通讯作者：
Szepetowski, Pierre
中科院分区：
文献类型：
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作者：
Burnashev, Nail;Szepetowski, Pierre
N-甲基-D-天冬氨酸受体（NMDAR）是在整个脑中表达并在脑功能中起重要作用的谷氨酸门控阳离子通道。亚基及其时空表达的多样性赋予特定NMDAR在特定脑区域和发育阶段的不同功能特性。NMDAR的突变可能会产生病理后果，实际上会导致各种神经系统疾病。最近的人类遗传学研究显示，在几种常见和常见的脑部疾病中，如智力残疾、自闭症谱系障碍（ASD）或癫痫，存在NMDAR亚基基因的多种改变。特定突变与NMDAR功能相应改变的关系可能为药物治疗这些疾病的靶向治疗提供一种途径。
N-Methyl-D-aspartate receptors (NMDARs) are glutamategated cation channels that are expressed throughout the brain and play essential role in brain functioning. Diversity of the subunits and of their spatio-temporal expression imparts distinct functional properties for the particular NMDAR in a particular brain region and developmental stage. Mutations in NMDARs may have pathological consequences and actually lead to various neurological disorders. Recent human genetic studies as highlighted here show the existence of multiple alterations in NMDARs subunits genes in several usual and common brain diseases, such as intellectual disability, autism spectrum disorders (ASD), or epilepsy. Relation of a particular mutation to the corresponding alteration of NMDARs function may provide an avenue to the targeted therapy for the pharmacological treatment of the disorders.