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Familial pain syndromes from mutations of the Na v 1.7 sodium channel
Author(s) -
Fischer Tanya Z.,
Waxman Stephen G.
Publication year - 2010
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.2009.05110.x
Subject(s) - erythromelalgia , neuropathic pain , channelopathy , sodium channel , sodium channel blocker , medicine , neuroscience , pain disorder , anesthesia , chronic pain , sodium , psychology , chemistry , organic chemistry
The literature currently suggests that voltage‐gated sodium channels play a major role in the pathogenesis of neuropathic pain. Alterations in the expression and targeting of specific sodium channels within injured dorsal root ganglia neurons appear to predispose the neurons to abnormal firing properties, allowing for the development of neuropathic pain. Mutations of one particular sodium channel (Na v 1.7) have been shown to cause inherited neuropathic pain in humans, specifically in erythromelalgia and paroxysmal extreme pain disorder. Inherited erythromelalgia is the first human pain syndrome to be understood at a molecular level, having been linked to gain‐of‐function mutations of Na v 1.7. Conversely, a loss‐of‐function of the Na v 1.7 channel can produce channelopathy‐associated insensitivity to pain. Therefore, the Na v 1.7 channel may provide a unique target for the pharmacotherapy of pain in humans. In this review article we summarize current knowledge regarding several different disease manifestations arising from changes within the Na v 1.7 channel.