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Related Concept Videos

Irritable Bowel Syndrome I: Introduction01:17

Irritable Bowel Syndrome I: Introduction

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Irritable Bowel Syndrome (IBS) is characterized by functional disturbances in the gastrointestinal system, presenting a cluster of symptoms without evident structural or biochemical abnormalities. It primarily affects the large intestine and may cause abdominal pain, bloating, excessive gas, diarrhea, constipation, or both.
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Ion channelopathies in functional GI disorders.

Arthur Beyder1, Gianrico Farrugia2

  • 1Enteric Neuroscience Program, Division of Gastroenterology & Hepatology, Department of Physiology & Biomedical Engineering, Mayo Clinic, Rochester, Minnesota beyder.arthur@mayo.edu.

American Journal of Physiology. Gastrointestinal and Liver Physiology
|August 13, 2016
PubMed
Summary

Ion channelopathies, disruptions in gastrointestinal (GI) ion channel function, are increasingly linked to functional GI disorders. Understanding these channelopathies offers new diagnostic and treatment avenues for GI diseases.

Keywords:
channelopathygastrointestinalion channelmutation

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Area of Science:

  • Gastroenterology
  • Molecular Biology
  • Physiology

Background:

  • Functional gastrointestinal disorders (FGIDs) involve GI abnormalities in secretion, absorption, motility, and sensation.
  • Ion channels are critical for GI functions, and their dysfunction causes channelopathies.
  • GI ion channelopathies are an emerging field, distinct from established roles in cardiology and neurology.

Purpose of the Study:

  • To review the current understanding of gastrointestinal (GI) ion channelopathies.
  • To highlight recent discoveries linking ion channel dysfunction to GI motility, secretion, and sensation alterations.
  • To discuss the implications for diagnosing and treating functional GI diseases.

Main Methods:

  • Literature review of recent discoveries in GI ion channelopathies.
  • Analysis of mutations in specific ion channels (e.g., CFTR, SCN5A, SCN9A, SCN11A) and their associated GI phenotypes.
  • Discussion of advances in structural biology, biophysics, and personalized medicine.

Main Results:

  • Epithelial channelopathies (e.g., CFTR mutations) manifest as constipation or diarrhea.
  • Muscle channelopathies (e.g., SCN5A mutations) are associated with irritable bowel syndrome.
  • Sensory nerve channelopathies (e.g., NaV1.7, NaV1.9) cause GI hyper- or hyposensation.

Conclusions:

  • GI ion channelopathies are a significant factor in functional GI disorders.
  • Advances in research enable novel drug targeting for specific channelopathies.
  • This emerging field promises improved disease stratification, diagnosis, and treatment for GI conditions.