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学科主题: 临床医学
题名:
Sporadic onset of erythermalgia: A gain-of-function mutation in Na(v)1.7
作者: 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
发表日期: 2006-03-01
DOI: 10.1002/ana.20776
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/52377
Appears in Collections:北京大学第一临床医学院_皮肤性病科_期刊论文

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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

Recommended Citation:
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.
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