Ion channelopathies in functional GI disorders.

Ion channelopathies in functional GI disorders. Am J Physiol Gastrointest Liver Physiol. 2016 Aug 11;:ajpgi.00237.2016 Authors: Beyder A, Farrugia G Abstract In the gastrointestinal (GI) tract, abnormalities in secretion, absorption, motility and sensation have been implicated in functional gastrointestinal disorders (FGIDs). Ion channels play important roles in all these GI functions. Disruptions of an ion channel's ability to conduct ions can lead to diseases called ion channelopathies. Channelopathies can result from changes in ion channel biophysical function or expression due to mutations, post-translational modification, and accessory protein malfunction. Channelopathies are strongly established in the fields of cardiology and neurology, but ion channelopathies are only beginning to be recognized in gastroenterology. In this review, we describe the state of the emerging field of GI ion channelopathies. Several recent discoveries show that channelopathies result in alterations in GI motility, secretion and sensation. In the epithelium, mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) or CFTR-associating proteins result in channelopathies with constipation or diarrhea as phenotypes. In the muscle, mutations in the SCN5A-encoded voltage-gated sodium channel NaV1.5 are associated with irritable bowel syndrome (IBS). In the sensory nerves, channelopathies of voltage-gated sodium channels NaV1.7 and NaV1.9 ...
Source: Am J Physiol Gastroi... - Category: Gastroenterology Authors: Tags: Am J Physiol Gastrointest Liver Physiol Source Type: research