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Gain-of-function Na v 1.8 mutations in painful neuropathy
Open accessAbstract
Painful peripheral neuropathy often occurs without apparent underlying cause. Gain-of-function variants of sodium channel Na v 1.7 have recently been found in ∼30% of cases of idiopathic painful small-fiber neuropathy. Here, we describe mutations in Na v 1.8, another sodium channel that is specifically expressed in dorsal root ganglion (DRG) neurons and peripheral nerve axons, in patients with painful neuropathy. Seven Na v 1.8 mutations were identified in 9 subjects within a series of 104 patients with painful predominantly small-fiber neuropathy. Three mutations met criteria for potential pathogenicity based on predictive algorithms and were assessed by voltage and current clamp. Functional profiling showed that two of these three Na v 1.8 mutations enhance the channel’s response to depolarization and produce hyperexcitability in DRG neurons. These observations suggest that mutations of Na v 1.8 contribute to painful peripheral neuropathy.
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Self-citationVoltage-gated sodium channels: structure, function, pharmacology, and clinical indications
de Lera Ruiz, M., & Kraus, R. L. (2015) · Journal of Medicinal Chemistry · doi:10.1021/jm501981g · Cited by 548
Toward a Mechanism-Based Approach to Pain Diagnosis
Vardeh, D., Mannion, R. J., & Woolf, C. J. (2016) · The Journal of Pain · doi:10.1016/j.jpain.2016.03.001 · Cited by 319
A de novo gain-of-function mutation in SCN11A causes loss of pain perception
Leipold, E., Liebmann, L., Korenke, G. C., Heinrich, T., Gießelmann, S., Baets, J., Ebbinghaus, M., Goral, R. O., Stödberg, T., Hennings, J. C., et al. (2013) · Nature Genetics · doi:10.1038/ng.2767 · Cited by 311
Selective Inhibition of Na V 1.8 with VX-548 for Acute Pain
Jones, J., Correll, D. J., Lechner, S. M., Jazic, I., Miao, X., Shaw, D., Simard, C., Osteen, J. D., Hare, B., Beaton, A., et al. (2023) · New England Journal of Medicine · doi:10.1056/nejmoa2209870 · Cited by 304
Metadata
- Authors
- Faber, C. G., Lauria, G., Merkies, I. S. J., Cheng, X., Han, C., Ahn, H.-S., Persson, A.-K., Hoeijmakers, J. G. J., Gerrits, M. M., Pierro, T., Lombardi, R., Kapetis, D., Dib-Hajj, S. D., & Waxman, S. G.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2012-10-31
- Volume
- 109
- Issue
- 47
- Pages
- 19444-19449
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1997333327
- Cited by
- 459
- References
- 1
- FWCI
- 18.11
- Type
- journal article
- Language
- en
- Open access
- green
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- Faber, C. G., Lauria, G., Merkies, I. S. J., Cheng, X., Han, C., Ahn, H.-S., Persson, A.-K., Hoeijmakers, J. G. J., Gerrits, M. M., Pierro, T., Lombardi, R., Kapetis, D., Dib-Hajj, S. D., & Waxman, S. G. (2012). Gain-of-function Na v 1.8 mutations in painful neuropathy. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.1216080109
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
