Journal
NEUROLOGY-GENETICS
Volume 7, Issue 1, Pages -Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/NXG.0000000000000550
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Funding
- Rehabilitation Research and Development Service, U.S. Department of Veterans Affairs [I01 RX003201]
- Queen Elisabeth Medical Foundation (Belgium)
- Concerted Research Action from the General Direction of Scientific Research of the French Community of Belgium [ARC17/22-083]
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The TRPM8 mutation enhances channel activation, increases basal current amplitude and intracellular [Ca2+] in cells carrying the mutant channel, and enhances the response to menthol, suggesting gain-of-function attributes on TRPM8 contribute to trigeminal neuralgia pathogenesis in patients carrying this mutation.
Objective To assess the functional effects of a variant, c.89 G > A (p.Arg30Gln), in the transient receptor potential melastatin 8 (TRPM8) cold-sensing, nonselective cation channel, which we have previously identified in a patient with familial trigeminal neuralgia. Methods We carried out Ca2+ imaging and whole-cell patch-clamp recording. Results The TRPM8 mutation enhances channel activation, increases basal current amplitude and intracellular [Ca2+] in cells carrying the mutant channel, and enhances the response to menthol. Conclusions We propose that Arg30Gln confers gain-of-function attributes on TRPM8, which contribute to pathogenesis of trigeminal neuralgia in patients carrying this mutation.
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