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| 帕金森病与ATP13A2基因 | |
| 引用本文： | 梁卉,郑文,邓昊. 帕金森病与ATP13A2基因[J]. 基础医学与临床, 2011, 31(10) |
| 作者姓名： | 梁卉 郑文 邓昊 |
| 作者单位： | 1. 中南大学湘雅三医院 医学实验中心,湖南长沙,410013 2. 中南大学湘雅三医院 神经内科,湖南长沙,410013 3. 中南大学湘雅三医院 医学实验中心,湖南长沙410013;中南大学湘雅三医院 神经内科,湖南长沙410013 |
| 基金项目： | 国家自然科学基金(13087135130971534); 教育部新世纪优秀人才支持计划(NCET-080563); 湖南省杰出青年基金(09JJ1005) |
| 摘 要： | ATP13A2基因是帕金森病(PD)的致病基因,早发型帕金森病(EOPD)和Kufor-Rakeb综合征(KRS)患者中均发现ATP13A2基因突变。基因突变类型与疾病的严重程度和发病年龄相关,PD患者中黑质多巴胺能神经元也存在ATP13A2基因mRNA表达升高。因此,对ATP13A2基因的研究将有助于该病的基因诊断、病理生理学机制的阐明和治疗。 |
| 关 键 词： | 帕金森病 ATP13A2基因 早发型帕金森病 Kufor-Rakeb综合征 |
Parkinson's disease and ATP13A2gene |
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| LIANG Hui,ZHENG Wen,DENG Hao. Parkinson's disease and ATP13A2gene[J]. Basic Medical Sciences and Clinics, 2011, 31(10) | |
| Authors: | LIANG Hui ZHENG Wen DENG Hao |
| Affiliation: | LIANG Hui1,ZHENG Wen2,DENG Hao1,2(1.Center of Experimental Medicine,2.Dept.of Neurology,the Third Xiangya Hospital,Central South University,Changsha 410013,China) |
| Abstract: | ATP13A2 gene was identified as the causative gene of Parkinson's disease,and its mutations occurred in early-onset Parkinson's disease(EOPD) and Kufor-Rakeb syndrome(KRS)patients.The types of mutations were associated with the severity of disease and the age of onset,and the expression of ATP13A2 mRNA was higher in substantia nigra dopaminergic neurons of PD patients.Study of ATP13A2 gene will be helpful for gene diagnosis,elucidation of pathophysiologic mechanism and treatment of Parkinson's disease. |
| Keywords: | Parkinson's disease ATP13A2 gene early-onset Parkinson's disease Kufor-Rakeb syndrome |
| 本文献已被 CNKI 万方数据 等数据库收录！ | |