The role of the SCN5A‐encoded channelopathy in irritable bowel syndrome and other gastrointestinal disorders. Issue 7 (20th April 2015)

• Record Type: Journal Article
• Authors: Verstraelen, T. E.; ter Bekke, R. M. A.; Volders, P. G. A.; Masclee, A. A. M.; Kruimel, J. W.
• Is Part Of: Neurogastroenterology & motility. Volume 27:Issue 7(2015:Jul.)
• Page Start: 906
• Page End: 913
• Publication Date: 2015-04-20
• Subjects: Gastrointestinal system -- Motility -- Periodicals; Gastrointestinal system -- Innervation -- Periodicals; 616.33
• DOI: 10.1111/nmo.12569
• Languages: English
• ISSNs: 1350-1925

Abstract

<abstract abstract-type="main" id="nmo12569-abs-0001"> <title>Abstract</title> <sec id="nmo12569-sec-0001" sec-type="section"> <title>Background</title> <p>Gastrointestinal functional and motility disorders, like irritable bowel syndrome (IBS), have a high prevalence in the Western population and cause significant morbidity and loss of quality of life leading to considerable costs for health care. A decade ago, it has been demonstrated that interstitial cells of Cajal and intestinal smooth muscle cells, cells important for gastrointestinal motility, express the sodium channel alpha subunit Na<sub>v</sub>1.5. In the heart, aberrant variants in this sodium channel, encoded by <italic>SCN5A</italic>, are linked to inherited arrhythmia syndromes, like the long‐QT syndrome type 3 and Brugada syndrome. Mounting data show a possible contribution of <italic>SCN5A</italic> mutants to gastrointestinal functional and motility disorders. Two percent of IBS patients harbor <italic>SCN5A</italic> mutations with electrophysiological evidence of loss‐ and gain‐of‐function. In addition, gastrointestinal symptoms are more prevalent in cardiac <italic>SCN5A</italic>‐mutation positive patients.</p> </sec> <sec id="nmo12569-sec-0002" sec-type="section"> <title>Purpose</title> <p>This review firstly describes the Na<sub>v</sub>1.5 channel and its physiological role in ventricular cardiomyocytes and gastrointestinal cells, then we focus on the involvement of mutant Na<sub>v</sub>1.5 in gastrointestinal functional and motility disorders. Future research might uncover novel mutation‐specific treatment strategies for <italic>SCN5A</italic>‐encoded gastrointestinal channelopathies.</p> </sec> </abstract>