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  • A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura

    Author(s)
    Lafreniere, Ronald G
    Cader, M Zameel
    Poulin, Jean-Francois
    Andres-Enguix, Isabelle
    Simoneau, Maryse
    Gupta, Namrata
    Boisvert, Karine
    Lafreniere, Francois
    McLaughlan, Shannon
    Dube, Marie-Pierre
    Marcinkiewicz, Martin M
    Ramagopalan, Sreeram
    Ansorge, Olaf
    Brais, Bernard
    Sequeiros, Jorge
    Pereira-Monteiro, Jose Maria
    Griffiths, Lyn R
    Tucker, Stephen J
    Ebers, George
    Rouleau, Guy A
    Griffith University Author(s)
    Griffiths, Lyn
    Year published
    2010
    Metadata
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    Abstract
    Migraine with aura is a common, debilitating, recurrent headache disorder associated with transient and reversible focal neurological symptoms1. A role has been suggested for the two-pore domain (K2P) potassium channel, TWIK-related spinal cord potassium channel (TRESK, encoded by KCNK18), in pain pathways and general anaesthesia2. We therefore examined whether TRESK is involved in migraine by screening the KCNK18 gene in subjects diagnosed with migraine. Here we report a frameshift mutation, F139WfsX24, which segregates perfectly with typical migraine with aura in a large pedigree. We also identified prominent TRESK expression ...
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    Migraine with aura is a common, debilitating, recurrent headache disorder associated with transient and reversible focal neurological symptoms1. A role has been suggested for the two-pore domain (K2P) potassium channel, TWIK-related spinal cord potassium channel (TRESK, encoded by KCNK18), in pain pathways and general anaesthesia2. We therefore examined whether TRESK is involved in migraine by screening the KCNK18 gene in subjects diagnosed with migraine. Here we report a frameshift mutation, F139WfsX24, which segregates perfectly with typical migraine with aura in a large pedigree. We also identified prominent TRESK expression in migraine-salient areas such as the trigeminal ganglion. Functional characterization of this mutation demonstrates that it causes a complete loss of TRESK function and that the mutant subunit suppresses wild-type channel function through a dominant-negative effect, thus explaining the dominant penetrance of this allele. These results therefore support a role for TRESK in the pathogenesis of typical migraine with aura and further support the role of this channel as a potential therapeutic target.
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    Journal Title
    Nature Medicine
    Volume
    16
    Issue
    10
    DOI
    https://doi.org/10.1038/nm.2216
    Subject
    Medical and Health Sciences not elsewhere classified
    Medical and Health Sciences
    Publication URI
    http://hdl.handle.net/10072/35661
    Collection
    • Journal articles

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