IR@PKUHSC  > 北京大学第一临床医学院  > 皮肤性病科
学科主题临床医学
Sporadic onset of erythermalgia: A gain-of-function mutation in Na(v)1.7
Han, CY1; Rush, AM1; Dib-Hajj, SD1; Li, S1; Xu, Z1; Wang, Y1; Tyrrell, L1; Wang, XL1; Yang, Y1; Waxman, SG1
刊名ANNALS OF NEUROLOGY
2006-03-01
DOI10.1002/ana.20776
59期:3页:553-558
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Neurosciences
研究领域[WOS]Neurosciences & Neurology
关键词[WOS]CLOSED-STATE INACTIVATION ; SPINAL SENSORY NEURONS ; CHANNEL ALPHA-SUBUNIT ; ROOT GANGLION NEURONS ; SODIUM-CHANNELS ; ELECTROPHYSIOLOGICAL PROPERTIES ; INFLAMMATORY PAIN ; ERYTHROMELALGIA ; RAT ; PN1
英文摘要

Objective: Inherited erythermalgia (erythromelalgia) is an autosomal dominant disorder in which patients experience severe burning pain in the extremities, in response to mild thermal stimuli and exercise. Although mutations in sodium channel Na(v)1.7 have been shown to underlie erythermalgia in several multigeneration families with the disease that have been investigated to date, the molecular basis of erythermalgia in sporadic cases is enigmatic. We investigated the role of Na(v)1.7 in a sporadic case of erythermalgia in a Chinese family. Methods Genomic DNA from patients and their asymptomatic family members were sequenced to identify mutations in Na(v)1.7. Whole-cell patch clamp analysis was used to characterize biophysical properties of wild-type and mutant Na(v)1.7 channels in mammalian cells. Results: A single amino acid substitution in the DIIS4-S5 linker of Na(v)1.7 was present in two children whose parents were asymptomatic. The asymptomatic father was genetically mosaic for the mutation. This mutation produces a hyperpolarizing shift in channel activation and an increase in amplitude of the response to slow, small depolarizations. Interpretation: Founder mutations in Na(v)1.7, which can confer hyperexcitability on peripheral sensory neurons, can underlie sporadic erythermalgia.

语种英语
WOS记录号WOS:000235920000015
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被引频次:113[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/400002259/52377
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.Chinese Acad Med Sci, Inst Mat Med, Beijing 100037, Peoples R China
4.Peking Union, Coll Med, Beijing, Peoples R China
5.VA Connecticut Healthcare Syst, Rehabil Res Ctr, West Haven, CT USA
6.Peking Univ, Hosp 1, Dept Dermatol, Beijing 100871, Peoples R China
7.Beijing Children Hosp, Dept Dermatol, Beijing, Peoples R China
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Han, CY,Rush, AM,Dib-Hajj, SD,et al. Sporadic onset of erythermalgia: A gain-of-function mutation in Na(v)1.7[J]. ANNALS OF NEUROLOGY,2006,59(3):553-558.
APA Han, CY.,Rush, AM.,Dib-Hajj, SD.,Li, S.,Xu, Z.,...&Waxman, SG.(2006).Sporadic onset of erythermalgia: A gain-of-function mutation in Na(v)1.7.ANNALS OF NEUROLOGY,59(3),553-558.
MLA Han, CY,et al."Sporadic onset of erythermalgia: A gain-of-function mutation in Na(v)1.7".ANNALS OF NEUROLOGY 59.3(2006):553-558.
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