Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.
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ABSTRACT:
SUBMITTER: Leipold E
PROVIDER: S-EPMC4686659 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Publications
Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.
Leipold Enrico E Hanson-Kahn Andrea A Frick Miya M Gong Ping P Bernstein Jonathan A JA Voigt Martin M Katona Istvan I Oliver Goral R R Altmüller Janine J Nürnberg Peter P Weis Joachim J Hübner Christian A CA Heinemann Stefan H SH Kurth Ingo I
Nature communications 20151208
Gain-of-function mutations in the human SCN11A-encoded voltage-gated Na(+) channel NaV1.9 cause severe pain disorders ranging from neuropathic pain to congenital pain insensitivity. However, the entire spectrum of the NaV1.9 diseases has yet to be defined. Applying whole-exome sequencing we here identify a missense change (p.V1184A) in NaV1.9, which leads to cold-aggravated peripheral pain in humans. Electrophysiological analysis reveals that p.V1184A shifts the voltage dependence of channel ope ...[more]
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