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Functional Study of NIPA2 Mutations Identified from the Patients with Childhood Absence Epilepsy
Xie, Han1; Zhang, Yuehua1; Zhang, Pingping1; Wang, Jingmin1; Wu, Ye1; Wu, Xiru1; Netoff, Theoden2; Jiang, Yuwu1
刊名PLOS ONE
2014-10-27
DOI10.1371/journal.pone.0109749
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
WOS记录号WOS:000347994900013
引用统计
被引频次:4[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60546
专题北京大学第一临床医学院_儿科
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
推荐引用方式
GB/T 7714
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).
APA Xie, Han.,Zhang, Yuehua.,Zhang, Pingping.,Wang, Jingmin.,Wu, Ye.,...&Jiang, Yuwu.(2014).Functional Study of NIPA2 Mutations Identified from the Patients with Childhood Absence Epilepsy.PLOS ONE,9(10).
MLA Xie, Han,et al."Functional Study of NIPA2 Mutations Identified from the Patients with Childhood Absence Epilepsy".PLOS ONE 9.10(2014).
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