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A new Na(v)1.7 mutation in an erythromelalgia patient
Estacion, Mark1,2,3; Yang, Yang1,2,3; Dib-Hajj, Sulayman D.1,2,3; Tyrrell, Lynda1,2,3; Lin, Zhimiao4; Yang, Yong4; Waxman, Stephen G.1,2,3
关键词Inherited Neuropathy Channelopathy Pain Erythromelalgia Sodium Channel
刊名BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
2013-03-01
DOI10.1016/j.bbrc.2013.01.079
432期:1页:99-104
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Biochemistry & Molecular Biology ; Biophysics
资助者Medical Research Service and Rehabilitation Research Service, Dept. of Veterans Affairs ; National Multiple Sclerosis Society ; erythromelalgia Association ; National Program for New Century Excellent Talents in University ; National Natural Science Foundation ; Medical Research Service and Rehabilitation Research Service, Dept. of Veterans Affairs ; National Multiple Sclerosis Society ; erythromelalgia Association ; National Program for New Century Excellent Talents in University ; National Natural Science Foundation
研究领域[WOS]Biochemistry & Molecular Biology ; Biophysics
关键词[WOS]EXTREME PAIN DISORDER ; SODIUM-CHANNEL MUTATION ; OF-FUNCTION MUTATIONS ; ELECTROPHYSIOLOGICAL PROPERTIES ; RESPONSIVE ERYTHROMELALGIA ; EPILEPSY ; SCN9A ; NEURONS ; ERYTHERMALGIA ; INACTIVATION
英文摘要

Gain-of-function missense mutations of SCN9A gene, which encodes voltage-gated sodium channel Na(v)1.7, alter channel′s biophysical properties causing painful disorders which are refractory to pharmacotherapy in the vast majority of patients. Here we report a novel SCN9A mutation (ca.T3947C) in exon 20 in a 9 year old patient, not present in 200 ethnically-matched control alleles; the mutation substitutes the invariant valine 1316 residue within DIII/S5 by alanine (V1316A). Voltage-clamp studies show that Na(v)1.7 V1316A mutation hyperpolarizes activation (-9 mV), and enhances response to ramp stimuli (3-fold), changes that are predicted to cause hyperexcitability of DRG neurons. V1316A also hyperpolarizes steady-state slow-inactivation (-9.9 mV), which is predicted to attenuate the effect of this mutation on DRG neuron firing. These changes are consistent with previously characterized Erytheromelalgia associated mutations of Na(v)1.7. (C) 2013 Elsevier Inc. All rights reserved.

语种英语
所属项目编号NCET-06-0015 ; 30400168
资助者Medical Research Service and Rehabilitation Research Service, Dept. of Veterans Affairs ; National Multiple Sclerosis Society ; erythromelalgia Association ; National Program for New Century Excellent Talents in University ; National Natural Science Foundation ; Medical Research Service and Rehabilitation Research Service, Dept. of Veterans Affairs ; National Multiple Sclerosis Society ; erythromelalgia Association ; National Program for New Century Excellent Talents in University ; National Natural Science Foundation
WOS记录号WOS:000316038500017
引用统计
被引频次:9[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/400002259/57027
专题北京大学第一临床医学院_皮肤性病科
作者单位1.Yale Univ, Sch Med, Dept Neurol, New Haven, CT 06510 USA
2.Yale Univ, Sch Med, Ctr Neurosci & Regenerat Res, New Haven, CT 06510 USA
3.VA Connecticut Healthcare Syst, Rehabil Res Ctr, West Haven, CT 06516 USA
4.Peking Univ First Hosp, Dept Dermatol, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Estacion, Mark,Yang, Yang,Dib-Hajj, Sulayman D.,et al. A new Na(v)1.7 mutation in an erythromelalgia patient[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,2013,432(1):99-104.
APA Estacion, Mark.,Yang, Yang.,Dib-Hajj, Sulayman D..,Tyrrell, Lynda.,Lin, Zhimiao.,...&Waxman, Stephen G..(2013).A new Na(v)1.7 mutation in an erythromelalgia patient.BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,432(1),99-104.
MLA Estacion, Mark,et al."A new Na(v)1.7 mutation in an erythromelalgia patient".BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 432.1(2013):99-104.
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