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 Ca imaging and whole-cell patch-clamp recording.
Results: The mutation enhances channel activation, increases basal current amplitude and intracellular [Ca] 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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8105906 | PMC |
| http://dx.doi.org/10.1212/NXG.0000000000000550 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
[Trigeminal neuralgia - Overview].
Laeknabladid
February 2025
Department of Neurology, University Hospital of Iceland, Reykjavik, Iceland.
Trigeminal neuralgia is the most common cause of facial pain in individuals over 50 years old and can have a profoundly negative impact on quality of life. Epidemiological studies have measured the annual incidence of trigeminal neuralgia at around 4-5 cases per 100,000 inhabitants per year. In Iceland, this would amount to about 16-20 new cases annually.
View Article and Find Full Text PDFTrigeminal Neuralgia: Disease Characterization and Prediction of Response to Surgical Intervention.
Curr Pain Headache Rep
January 2025
Department of Neurosurgery, University of Michigan, Ann Arbor, MI, USA.
Purpose Of Review: Trigeminal neuralgia (TN) is a highly heterogeneous condition with a wide choice of successful treatment options. However, differences between subtypes are poorly understood and it remains unknown which patients will respond to different treatments. This review aims to summarize the current state of the TN field and explore the problem of predicting surgical outcomes.
View Article and Find Full Text PDFCase 337.
Radiology
January 2025
From the Rush University Medical Center, 1620 W Harrison St, Chicago, IL 60612 (B.H.M., F.G., H.W.A.A., S.G.D., C.D.D., M.A.M.); and University of Texas Health Science Center, Houston, Tex (X.R.Z.).
A 38-year-old previously healthy male patient presented with left-sided facial pain over the prior 5 weeks. He first noticed the pain while washing and applying pressure to his face. The pain was described as shock-like, sharp and shooting, and radiating along the left cheek and temple.
View Article and Find Full Text PDFAny news on the pharmacological treatment of trigeminal neuralgia?
Rev Esp Anestesiol Reanim (Engl Ed)
January 2025
Facultad de Medicina y Ciencias de la Salud, Universidad de Alcalá, Alcalá de Henares, Madrid, Spain.
Pathogenesis, Diagnosis, and Management of Trigeminal Neuralgia: A Narrative Review.
J Clin Med
January 2025
Stomatological Hospital and Dental School of Tongji University, Shanghai Engineering Research Center of Tooth Restoration and Regeneration, Shanghai 200072, China.
Trigeminal neuralgia (TN) is an excruciating neurological disorder characterized by intense, stimulus-induced, and transient facial stabbing pain. The classification of TN has changed as a result of new discoveries in the last decade regarding its symptomatology, pathogenesis, and management. Because different types of facial pain have different clinical therapy and neuroimaging interpretations, a precise diagnosis is essential.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!