Article
Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy.
American journal of physiology. Gastrointestinal and liver physiology - 1 Feb 2009
Saito Yuri A, Strege Peter R, Tester David J, Locke G Richard, Talley Nicholas J, Bernard Cheryl E, Rae James L, Makielski Jonathan C, Ackerman Michael J, Farrugia Gianrico
Abstract excerpt
The SCN5A-encoded Na(v)1.5 Na(+) channel is expressed in interstitial cells of Cajal and smooth muscle in the circular layer of the human intestine. Patients with mutations in SCN5A are more likely to report gastrointestinal symptoms, especially abdominal pain. Twin and family studies of irritable bowel syndrome (IBS) suggest a genetic basis for IBS, but no genes have been identified to date. Therefore, our aims...
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