Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene
Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene
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DOI：
10.1016/j.jns.2010.10.006
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发表时间：
2011-02-15
影响因子：
4.4
通讯作者：
Leshinsky-Silver, Esther
中科院分区：
文献类型：
--
作者：
Dabby, Ron;Sadeh, Menachem;Leshinsky-Silver, Esther
背景资料：SCN 9A基因（编码NaV1.7电压门控钠通道）的功能获得性突变导致两种罕见的阵发性疼痛疾病：遗传性红斑性肢痛症（IEM）和阵发性极度疼痛疾病（PEDP）。这些表型的特点是发作性的极端局部疼痛与皮肤自主神经体征。目的：探讨SCN 9A基因突变与慢性非阵发性神经病理性疼痛的关系。患者：9例慢性严重不明原因神经病理性疼痛患者。该患者在外显子27中存在n.4648 T-C杂合性变化，导致W1550 R（一种高度保守的氨基酸）置换，预测跨膜S2区重复IV的损伤。在50名对照中未发现这种突变。结论：SCN 9A突变引起的疼痛综合征比IEM和PEPD。这些突变应考虑在患者的耐药原因不明的慢性神经性疼痛。(C)2010爱思唯尔有限公司版权所有。
Background: Gain-of-function mutations in the SCN9A gene (encoding to NaV1.7 voltage-gated sodium channel) cause two rare paroxysmal pain disorders: inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEDP). These phenotypes are characterized by episodic extreme localized pain with cutaneous autonomic signs. So far, no other phenotypes have been associated with mutation in the SCN9A gene.Objective: To investigate mutations in the SCN9A gene in patients with chronic non-paroxysmal neuropathic pain.Patients: 9 patients with chronic severe unexplained neuropathic pain.Results: Of the nine patients one had predicted pathologic mutations in the SCN9A gene. This patient had a heterozygous change of n.4648 T-C in exon 27 resulting in a substitution of W1550R, a highly conserved amino acid, predicting damage in the transmembrane S2 region, repeat IV. This mutation was not found in 50 controls.Conclusions: SCN9A mutations cause pain syndromes other than IEM and PEPD. These mutations should be considered in patients with resistant unexplained chronic neuropathic pain. (C) 2010 Elsevier B.V. All rights reserved.