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学科主题: 临床医学
题名:
Genetics and Molecular Pathophysiology of Na(v)1.7-Related Pain Syndromes
作者: Dib-Hajj, Sulayman D.1,2,3; Yang, Yong4; Waxman, Stephen G.1,2,3; Rouleau, G; Gaspar, C
刊名: ADVANCES IN GENETICS, VOL 63
发表日期: 2008
DOI: 10.1016/S0065-2660(08)01004-3
卷: 63, 页:85-110
收录类别: BSCI ; SCI
文章类型: Book Chapter
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: GATED SODIUM-CHANNEL ; DORSAL-ROOT GANGLION ; FAMILIAL RECTAL PAIN ; SPINAL SENSORY NEURONS ; CLOSED-STATE INACTIVATION ; ACTIVATED PROTEIN-KINASE ; PRIMARY AFFERENT NEURONS ; SUBUNIT MESSENGER-RNAS ; CENTRAL-NERVOUS-SYSTEM ; OF-FUNCTION MUTATION
英文摘要:

SCN9A, the gene which encodes voltage-gated sodium channel Na(v)1.7, is located on human chromosome 2 within a cluster of other members of this gene family. Na(v)1.7 is present at high levels in most peripheral nociceptive neurons in dorsal root ganglion (DRG) and in sympathetic neurons. In addition to its focal tissue-specific expression, Na(v)1.7 is distinguished by its ability to amplify small depolarizations, thus acting as a threshold channel and modulating excitability. Dominantly inherited gain-of-function mutations in SCN9A have been linked to two familial painful disorders: inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEPD). One set of mutations leads to severe episodes of pain in the feet and hands in patients with IEM, and a different set of mutations causes pain in a perirectal, periocular, and mandibular distribution in patients with PEPD. These mutations allow mutant channels to activate in response to weaker stimuli, or to remain open longer in response to stimulation. The introduction of mutant channels into DRG neurons alters electrogenesis and renders these primary sensory neurons hyperexcitable. Mutant Na(v)1.7 channels lower the threshold for single action potentials and increase the number of action potentials that neurons fire in response to suprathreshold stiumli. In contrast, recessively inherited loss-of-function mutations in SCN9A, which cause a loss of function of Na(v)1.7 in patients, lead to indifference to pain with sparing of motor and cognitive abilities. The central role of Na(v)1.7 in these disorders, and the apparently limited consequences of loss of this channel in humans make it an attractive target for treatment of pain. (C) 2008, Elsevier Inc.

语种: 英语
WOS记录号: WOS:000280568700004
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/62737
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.VA Connecticut Healthcare Syst, Rehabil Res Ctr, West Haven, CT 06516 USA
4.Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China

Recommended Citation:
Dib-Hajj, Sulayman D.,Yang, Yong,Waxman, Stephen G.,et al. Genetics and Molecular Pathophysiology of Na(v)1.7-Related Pain Syndromes[J]. ADVANCES IN GENETICS, VOL 63,2008,63:85-110.
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