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学科主题: 临床医学
题名:
Functional Study of NIPA2 Mutations Identified from the Patients with Childhood Absence Epilepsy
作者: Xie, Han1; Zhang, Yuehua1; Zhang, Pingping1; Wang, Jingmin1; Wu, Ye1; Wu, Xiru1; Netoff, Theoden2; Jiang, Yuwu1
刊名: PLOS ONE
发表日期: 2014-10-27
DOI: 10.1371/journal.pone.0109749
卷: 9, 期:10
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
研究领域[WOS]: Science & Technology - Other Topics
关键词[WOS]: HEREDITARY SPASTIC PARAPLEGIA ; NMDA RESPONSES ; NEURONS ; CHANNELS ; CACNA1H ; BINDING ; BLOCK ; GENE
英文摘要:

Recently many genetic mutations that are associated with epilepsy have been identified. The protein NIPA2 ( non-imprinted in Prader-Willi/Angelman syndrome region protein 2) is a highly selective magnesium transporter encoded by the gene NIPA2 in which we have found three mutations (p.I178F, p.N244S and p.N334_E335insD) within a population of patients with childhood absence epilepsy (CAE). In this study, immunofluorescence labeling, inductively coupled plasma-optical emission spectroscopy (ICP-OES), MTT metabolic rate detection and computational modeling were utilized to elucidate how these mutations result in CAE. We found in cultured neurons that NIPA2 (wild-type) proteins were localized to the cell periphery, whereas mutant proteins were not effectively trafficked to the cell membrane. Furthermore, we found a decrease in intracellular magnesium concentration in the neurons transfected with mutant NIPA2, but no effect on the survival of neurons. To understand how low intracellular magnesium resulted in hyperexcitability, we built and analyzed a computational model to simulate the effects of mutations. The model suggested that lower intracellular magnesium concentration enhanced synaptic N-methyl-D-aspartate receptor (NMDAR) currents. This study primarily reveals that a selective magnesium transporter NIPA2 may play a role in the pathogenesis of CAE.

语种: 英语
所属项目编号: 81271439 ; 2012CB944602 ; 1135581 ; 190960 ; 201206010800
项目资助者: National Natural Science Fund of China ; National Key Research Project "973&prime ; &prime ; National Science Funding ; Epilepsy Foundation ; China Scholarship Council Program ; Academic Scholarship for Doctoral Candidates (Ministry of Education, P.R. China)
WOS记录号: WOS:000347994900013
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60546
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China
2.Univ Minnesota, Dept Biomed Engn, Minneapolis, MN 55455 USA

Recommended Citation:
Xie, Han,Zhang, Yuehua,Zhang, Pingping,et al. Functional Study of NIPA2 Mutations Identified from the Patients with Childhood Absence Epilepsy[J]. PLOS ONE,2014,9(10).
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