SLC1A2基因与特发性震颤的研究进展

Research progress of SLC1A2 gene and essential tremor

特发性震颤(ET)是以震颤为主要表现的常见运动障碍性疾病。ET在临床上存在异质性,除以震颤为主要表现的运动症状以外,还包括非运动症状如神经精神症状(焦虑、抑郁)、人格改变、睡眠障碍等,其中焦虑、抑郁最常见,并随着疾病进展逐渐加重,对患者生活质量造成不良影响。因此寻找ET精神症状的临床早期生物标志物对ET患者的诊疗起到重要的作用。全基因组关联研究(GWAS)描述了与ET相关的SLC1A2基因,在ET患者的非运动症状中此基因编码的兴奋性神经递质谷氨酸的主要转运蛋白(EAAT2)或胶质高亲和力谷氨酸转运体(GLT1)与ET患者的焦虑、抑郁表型存在联系。目前有关ET患者的发病机制尚未清楚,但许多报道证实遗传因素在ET的发病机制中起着重要作用。其中SLC1A2有望成为该病神经精神症状表型的生物标志物,为临床工作者及时采取相应的干预措施提供依据。本文就SLC1A2基因与特发性震颤进行综述。

Essential tremor(ET)is a common dyskinesia disease characterized by tremor.ET is clinically heterogeneous.In addition to the motor symptoms with tremor as the main manifestation,it also includes non-motor symptoms such as neuropsychiatric symptoms(anxiety,depression),personality changes,sleep disorders,etc.Among them,anxiety and depression are the most common,and gradually worsen as the disease progresses,causing adverse effects on the quality of life of patients.Therefore,the early clinical full text of looking for ET psychiatric symptoms seems to have no content of the evaluation scale and is irrelevant.It is suggested that removing biomarkers plays an important role in the diagnosis and treatment of ET patients.Genome-Wide Association Studies(GWAS)describes the SLC1A2 gene associated with ET,and the EAAT2 or GLT1 encoded by this gene is associated with the anxiety and depression phenotypes of ET patients in non-motor symptoms.Up to now,the pathogenesis of ET patients is not clear,but many reports confirm that genetic factors play an important role in the pathogenesis of ET.Among them,SLC1A2 is expected to become a biomarker of the neuropsychiatric phenotype of the disease,providing a basis for clinical workers to take corresponding intervention measures in time.This article reviews SLC1A2 gene and essential tremor.