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Significance This study explores the potential pathogenic effects of a novel mutation of TRPM7 channel (A931T) identified in a 73-year-old man affected by familial trigeminal neuralgia. We show that A931T… Click to show full abstract
Significance This study explores the potential pathogenic effects of a novel mutation of TRPM7 channel (A931T) identified in a 73-year-old man affected by familial trigeminal neuralgia. We show that A931T results in an abnormal Na+ influx that is carried by an omega current and appears to be due to destabilization of a hydrophobic interaction between S3 and S4 transmembrane domains. We demonstrate that the expression of TRPM7 mutant channels depolarizes membrane potential of trigeminal ganglion neurons and increases their hyperexcitability that may contribute to trigeminal neuralgia in patients carrying this mutation.
Journal Title: Proceedings of the National Academy of Sciences of the United States of America
Year Published: 2022
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