非特异性精神发育迟滞相关基因GPD2的研究进展  

Research progress on non-specific mental retardation related gene GPD2

作　　者：左璇[1] 高晓彩[1] 张富昌[1] 

机构地区：[1]西北大学生命科学学院人口与健康研究所,西安710069

出　　处：《中国优生与遗传杂志》2011年第6期1-2,4,共3页Chinese Journal of Birth Health & Heredity

基　　金：陕西省自然科学基础研究计划项目(2010JM4004);陕西省科技研究发展计划项目(2007K01-25)

摘　　要：GPD2基因属于新发现的非特异性神经发育迟滞相关基因之一,编码线粒体甘油磷酸脱氢酶(mGPDH),最新的分子和功能研究显示GPD2基因的转录物水平和它所翻译的mGPDH蛋白活性在一个轻度非特异性神经发育迟滞患者的淋巴细胞中比正常人减少了约1/2。相关研究显示mGPDH蛋白质的功能缺陷可能与神经发育迟滞(MR)相关,表明GPD2基因在某些方面涉及神经发育迟滞。本文综述了GPD2基因的结构和产物、基因的生物学功能,与精神发育迟滞的相关性的研究现状,并对以后的研究工作进行了展望。GPD2 is one of Newly discovered genes related with non-specific mental retardation..This gene encodes the mitochondrial glycerophosphate dehydrogenase（mGPDH）,Molecular and functional and functional studies showed approximately a twofold decrease of GPD2 transcript level as well as decreased activity of the coded mGPDH protein in lymphoblastoid cell lines of the patient compared to controls.The related research suggest that functional defect of the mGPDH protein could be associated with mental retardation.In this report we review the study of current conditions for the structure,encoding product and physiological functions and the relationship with mental retardation of GPD2 gene and give an expectation for further investigation and exploration in the future.

关 键 词：GPD2基因 非特异性精神发育迟滞 基因突变 mGPDH 

分 类 号：R749[医药卫生—神经病学与精神病学]