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学科主题: 临床医学
题名:
Early- and late-onset inherited erythromelalgia: genotypephenotype correlation
作者: Han, Chongyang1,2,3; Dib-Hajj, Sulayman D.1,2,3; Lin, Zhimiao4; Li, Yan4; Eastman, Emmanuella M.1,2,3; Tyrrell, Lynda1,2,3; Cao, Xianwei5; Yang, Yong4; Waxman, Stephen G.1,2,3
关键词: channelopathy ; erythromelalgia ; pain ; sodium channel
刊名: BRAIN
发表日期: 2009-07-01
DOI: 10.1093/brain/awp078
卷: 132, 页:1711-1722
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]: CHANNEL ALPHA-SUBUNIT ; CLOSED-STATE INACTIVATION ; NA(V)1.7 SODIUM-CHANNELS ; SPINAL SENSORY NEURONS ; ROOT GANGLION NEURONS ; OF-FUNCTION MUTATION ; ELECTROPHYSIOLOGICAL PROPERTIES ; PAIN DISORDERS ; DRG NEURONS ; ERYTHERMALGIA
英文摘要:

Inherited erythromelalgia (IEM), an autosomal dominant disorder characterized by severe burning pain in response to mild warmth, has been shown to be caused by gain-of-function mutations of sodium channel Na(v)1.7 which is preferentially expressed within dorsal root ganglion (DRG) and sympathetic ganglion neurons. Almost all physiologically characterized cases of IEM have been associated with onset in early childhood. Here, we report the voltage-clamp and current-clamp analysis of a new Na(v)1.7 mutation, Q10R, in a patient with clinical onset of erythromelalgia in the second decade. We show that the mutation in this patient hyperpolarizes activation by only 5.3mV, a smaller shift than seen with early-onset erythromelalgia mutations, but similar to that of I136V, another mutation that is linked to delayed-onset IEM. Using current-clamp, we show that the expression of Q10R induces hyperexcitability in DRG neurons, but produces an increase in excitability that is smaller than the change produced by I848T, an early-onset erythromelalgia mutation. Our analysis suggests a genotypephenotype relationship at three levels (clinical, cellular and molecular/ion channel), with mutations that produce smaller effects on sodium channel activation being associated with a smaller degree of DRG neuron excitability and later onset of clinical signs.

语种: 英语
WOS记录号: WOS:000267440700010
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/53007
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.Vet Affairs Connecticut Healthcare Syst, Rehabil Res Ctr, West Haven, CT 06516 USA
4.Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China
5.Nanchang Univ, Affiliated Hosp 1, Dept Dermatol, Nanchang 33006, Jiangxi, Peoples R China

Recommended Citation:
Han, Chongyang,Dib-Hajj, Sulayman D.,Lin, Zhimiao,et al. Early- and late-onset inherited erythromelalgia: genotypephenotype correlation[J]. BRAIN,2009,132:1711-1722.
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