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
Early- and late-onset inherited erythromelalgia: genotypephenotype correlation
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
2009-07-01
DOI10.1093/brain/awp078
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
引用统计
被引频次:60[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/400002259/53007
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.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
推荐引用方式
GB/T 7714
Han, Chongyang,Dib-Hajj, Sulayman D.,Lin, Zhimiao,et al. Early- and late-onset inherited erythromelalgia: genotypephenotype correlation[J]. BRAIN,2009,132:1711-1722.
APA Han, Chongyang.,Dib-Hajj, Sulayman D..,Lin, Zhimiao.,Li, Yan.,Eastman, Emmanuella M..,...&Waxman, Stephen G..(2009).Early- and late-onset inherited erythromelalgia: genotypephenotype correlation.BRAIN,132,1711-1722.
MLA Han, Chongyang,et al."Early- and late-onset inherited erythromelalgia: genotypephenotype correlation".BRAIN 132(2009):1711-1722.
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