Trigeminal Neuralgia TRPM8 Mutation Enhanced Activation, Basal [Ca2+]i and Menthol Response

Gualdani, Roberta;Yuan, Jun-Hui;Effraim, Philip R.;Di Stefano, Giulia;Waxman, Stephen G.;et.al.
(2021) Neurology Genetics — Vol. 7, n° 1, p. 1 (2021)

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Abstract
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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Gualdani, R., Yuan, J.-H., Effraim, P. R., Di Stefano, G., Truini, A., Cruccu, G., Dib-Hajj, S. D., Gailly, P., & Waxman, S. G. (2021). Trigeminal Neuralgia TRPM8 Mutation Enhanced Activation, Basal [Ca2+]i and Menthol Response. Neurology Genetics, 7(1), 1. https://doi.org/10.1212/NXG.0000000000000550 (Original work published 2021)