Ion channelopathies in functional GI disorders

Research output: Contribution to journalReview article

17 Citations (Scopus)

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 ion channels’ 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, posttranslational 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 Na V 1.5 are associated with irritable bowel syndrome. In the sensory nerves, channelopathies of voltage-gated sodium channels Na V 1.7 and Na V 1.9 (encoded by SCN9A, SCN11A, respectively) manifest by either GI hyperor hyposensation. Recent advances in structural biology and ion channel biophysics, coupled with personalized medicine, have fueled rapid discoveries of novel channelopathies and direct drug targeting of specific channelopathies. In summary, the emerging field of GI ion channelopathies has significant implications for functional GI disease stratification, diagnosis, and treatment.

Original languageEnglish (US)
Pages (from-to)G581-G586
JournalAmerican Journal of Physiology - Gastrointestinal and Liver Physiology
Volume311
Issue number4
DOIs
StatePublished - 2016

Fingerprint

Channelopathies
Gastrointestinal Diseases
Ions
Ion Channels
Voltage-Gated Sodium Channels
Cystic Fibrosis Transmembrane Conductance Regulator
Mutation
Biophysics
Precision Medicine
Gastrointestinal Motility
Aptitude
Irritable Bowel Syndrome
Gastroenterology
Constipation
Drug Delivery Systems
Post Translational Protein Processing
Neurology
Cardiology
Gastrointestinal Tract
Diarrhea

Keywords

  • Channelopathy
  • Gastrointestinal
  • Ion channel
  • Mutation

ASJC Scopus subject areas

  • Physiology
  • Hepatology
  • Gastroenterology
  • Physiology (medical)

Cite this

Ion channelopathies in functional GI disorders. / Beyder, Arthur; Farrugia, Gianrico.

In: American Journal of Physiology - Gastrointestinal and Liver Physiology, Vol. 311, No. 4, 2016, p. G581-G586.

Research output: Contribution to journalReview article

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