Article
Pain perception is altered by a nucleotide polymorphism in SCN9A.
Proceedings of the National Academy of Sciences of the United States of America - 16 Mar 2010
Reimann Frank, Cox James J, Belfer Inna, Diatchenko Luda, Zaykin Dmitri V, McHale Duncan P, Drenth Joost P H, Dai Feng, Wheeler Jerry, Sanders Frances, Wood Linda, Wu Tian-Xia, Karppinen Jaro, Nikolajsen Lone, Männikkö Minna, Max Mitchell B, Kiselycznyk Carly, Poddar Minakshi, Te Morsche Rene H M, Smith Shad, Gibson Dustin, Kelempisioti Anthi, Maixner William, Gribble Fiona M, Woods C Geoffrey
Abstract excerpt
The gene SCN9A is responsible for three human pain disorders. Nonsense mutations cause a complete absence of pain, whereas activating mutations cause severe episodic pain in paroxysmal extreme pain disorder and primary erythermalgia. This led us to investigate whether single nucleotide polymorphi...
Topics
- Adult
- Alleles
- Biophysical Phenomena
- Cohort Studies
- Female
- Genetic Predisposition to Disease
- Humans
- Mutant Proteins
- NAV1.7 Voltage-Gated Sodium Channel