What is it about?

In this paper, Gualdani et al. report a mutation in the TRPM7 channel in members of a kindred with familial trigeminal neuralgia, a disorder characterized by paroxysms of severe facial pain. The TRPM7 channel is normally permeable to calcium and magnesium ions. The mutation replaces a single amino acid and opens a secondary pore in the channel that serves as a route for abnormal influx of sodium ions, resulting in hyperexcitability of trigeminal ganglion neurons that innervate the face.

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Why is it important?

In showing how this dramatic alteration in the electrical properties of trigeminal neurons can account for pain in this family, this study provides an example of how channel biophysics can be linked to human disease.

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This page is a summary of: A TRPM7 mutation linked to familial trigeminal neuralgia: Omega current and hyperexcitability of trigeminal ganglion neurons, Proceedings of the National Academy of Sciences, September 2022, Proceedings of the National Academy of Sciences,
DOI: 10.1073/pnas.2119630119.
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