GRM7基因突变及其对神经发育的影响

IF 3.3 3区心理学 Q1 BEHAVIORAL SCIENCES

Pharmacology Biochemistry and Behavior Pub Date : 2023-04-01 DOI:10.1016/j.pbb.2023.173546

Geanne A. Freitas , Colleen M. Niswender

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引用次数: 1

摘要

代谢型谷氨酸受体7（mGlu7）由人类GRM7基因编码，是一种突触前G蛋白偶联的谷氨酸受体，对调节神经传递至关重要。GRM7的突变或表达减少已在不同的遗传性神经发育障碍（NDD）中被发现，罕见的双等位基因错义变体已被认为是NDD亚群的基础。临床GRM7变体与一系列与神经发育分子特征一致的症状有关，包括髓鞘形成不足、脑萎缩和轴突生长缺陷。在这里，我们回顾了关于NDD患者GRM7变体引起的细胞和分子缺陷的最新发现。

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GRM7 gene mutations and consequences for neurodevelopment

The metabotropic glutamate receptor 7 (mGlu₇), 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.

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来源期刊

Pharmacology Biochemistry and Behavior 医学-行为科学

CiteScore

6.40

自引率

2.80%

发文量

122

审稿时长

38 days

期刊介绍： Pharmacology Biochemistry & Behavior publishes original reports in the areas of pharmacology and biochemistry in which the primary emphasis and theoretical context are behavioral. Contributions may involve clinical, preclinical, or basic research. Purely biochemical or toxicology studies will not be published. Papers describing the behavioral effects of novel drugs in models of psychiatric, neurological and cognitive disorders, and central pain must include a positive control unless the paper is on a disease where such a drug is not available yet. Papers focusing on physiological processes (e.g., peripheral pain mechanisms, body temperature regulation, seizure activity) are not accepted as we would like to retain the focus of Pharmacology Biochemistry & Behavior on behavior and its interaction with the biochemistry and neurochemistry of the central nervous system. Papers describing the effects of plant materials are generally not considered, unless the active ingredients are studied, the extraction method is well described, the doses tested are known, and clear and definite experimental evidence on the mechanism of action of the active ingredients is provided.