Article
Irritable bowel syndrome patients have SCN5A channelopathies that lead to decreased NaV1.5 current and mechanosensitivity.
American journal of physiology. Gastrointestinal and liver physiology - 1 Apr 2018
Strege Peter R, Mazzone Amelia, Bernard Cheryl E, Neshatian Leila, Gibbons Simon J, Saito Yuri A, Tester David J, Calvert Melissa L, Mayer Emeran A, Chang Lin, Ackerman Michael J, Beyder Arthur, Farrugia Gianrico
Abstract excerpt
The SCN5A-encoded voltage-gated mechanosensitive Na+ channel NaV1.5 is expressed in human gastrointestinal smooth muscle cells and interstitial cells of Cajal. NaV1.5 contributes to smooth muscle electrical slow waves and mechanical sensitivity. In predominantly Caucasian irritable bowel syndrome (IBS) patient cohorts, 2-3% of patients have SCN5A missense mutations that alter NaV1.5 function and may contribute to...
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