| 刘 磊,许婵娟,范治然,侯国飞,刘剑峰.GABAB受体基因突变和神经疾病研究进展[J].,2019,19(6):1172-1175 |
| GABAB受体基因突变和神经疾病研究进展 |
| Research Progress of GABAB Receptor Genetic Variants and Neurological Diseases |
| 投稿时间：2018-05-28 修订日期：2018-06-23 |
| DOI：10.13241/j.cnki.pmb.2019.06.038 |
| 中文关键词: γ-氨基丁酸B型受体 GABBR1基因 GABBR2基因 神经疾病 变构调节剂 |
| 英文关键词: GABAB receptor GABBR1 GABBR2 Neurological diseases Allosteric modulators |
| 基金项目:国家自然科学基金项目（31711530146，31511130131，31301163） |
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| 中文摘要: |
| 摘要：γ-氨基丁酸B型（GABA）受体是中枢神经系统主要抑制性神经递质GABA的代谢型受体，由GABBR1和GABBR2两个基因共同编码，属于C族G蛋白偶联受体，其介导GABA系统的功能紊乱与许多神经疾病有关，如焦虑、抑郁、癫痫、自闭症、药物成瘾和精神分裂症等。GABA受体相关基因及其多态性变异体参与了多种疾病的病因学过程，受体基因突变和疾病关联性研究为疾病的理解提供了新途径，也为疾病的诊断和治疗提供了潜在新靶标。本文重点对GABA受体编码基因相关突变和神经类疾病的关联性分析研究、不同突变和疾病具体表型的关联研究以及受体突变如何影响受体功能等方面最新进展进行综述。同时，对受体突变的可能致病机制提出了初步设想，并有针对性地指出了受体变构调节剂在相关疾病治疗领域的潜在应用，以期为这些疾病的诊断和治疗提供有效的帮助。 |
| 英文摘要: |
| ABSTRACT: γ-aminobutyric acid (GABA) Type B (GABA) receptor encoding by GABBR1 and GABBR2, is a metabotropic receptor of GABA, the main inhibitory neurotransmitter in the central nervous system, and belongs to class C G protein-coupled receptors (GPCRs). Dysfunction of the GABAergic system mediated by GABA receptor is associated with many neurological disorders, such as anxiety, depression, epilepsy, autism, drug addiction and schizophrenia. Its encoding genes and their polymorphic variants are involved in the etiology of many diseases and the study of genetic associations between the mutations and diseases provide a new way to understand the diseases. This review focuses on the recent progress in the association analysis of genetic variations within GABA receptor-encoding genes and neurological diseases, different variants and disease-specific phenotypes, and their effects on the receptor functions. Meanwhile, the possible pathogenic mechanism of these variants was proposed and the potential applications of the allosteric modulators in the treatment of these diseases were pointed out regarding their characteristics, which would facilitate the diagnosis and treatment of these diseases in the future. |
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