Catterall William A, Yu Frank H
Department of Pharmacology, University of Washington, Seattle, Washington 98195, USA.
Neuron. 2006 Dec 7;52(5):743-4. doi: 10.1016/j.neuron.2006.11.017.
Paroxysmal extreme pain disorder (PEPD), previously known as familial rectal pain (FRP, OMIM 167400), is an inherited disease causing intense burning rectal, ocular, and submandibular pain and flushing. Fertleman et al. (this issue of Neuron) show that mutations in SCN9A, the gene encoding the sodium channel Na(V)1.7 channels, are responsible for this syndrome. Together with earlier work implicating a distinct class of functional mutations in SCN9A in a distinct inherited pain syndrome, these results point to Na(V)1.7 channels as key players in signaling nociceptive information and as a potential target for drug therapy of chronic pain.
阵发性剧痛障碍（PEPD），以前称为家族性直肠疼痛（FRP，OMIM 167400），是一种遗传性疾病，可导致直肠、眼部和下颌下剧烈灼痛及潮红。费特尔曼等人（本期《神经元》）表明，编码钠通道Na(V)1.7的SCN9A基因突变是导致该综合征的原因。结合早期有关SCN9A中一类不同的功能性突变与一种不同的遗传性疼痛综合征相关的研究工作，这些结果表明Na(V)1.7通道是伤害性信息信号传导的关键参与者，也是慢性疼痛药物治疗的潜在靶点。
