The role of the SCN5A‐encoded channelopathy in irritable bowel syndrome and other gastrointestinal disorders

  title={The role of the SCN5A‐encoded channelopathy in irritable bowel syndrome and other gastrointestinal disorders},
  author={Tom E. Verstraelen and R. M. A. Bekke and Paul G. A. Volders and Ad A. M. Masclee and Joanna W Kruimel},
  journal={Neurogastroenterology \& Motility},
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 Nav1.5. In the heart, aberrant variants in this sodium… 

Ion channelopathies in functional GI disorders.

  • A. BeyderG. Farrugia
  • Medicine, Biology
    American journal of physiology. Gastrointestinal and liver physiology
  • 2016
The state of the emerging field of GI ion channelopathies has significant implications for functional GI disease stratification, diagnosis, and treatment.

SCN5A Variants: Association With Cardiac Disorders

The SCN5A gene encodes the alpha subunit of the main cardiac sodium channel Nav1.5. This channel predominates inward sodium current (INa) and plays a critical role in regulation of cardiac

Ion channels, ion channel receptors, and visceral hypersensitivity in irritable bowel syndrome

  • I. FuentesJ. Christianson
  • Medicine, Biology
    Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society
  • 2016
This mini‐review will discuss the contribution of specific ion channels to VH in IBS, both in human patients and rodent models, and how Cav3.2 may play a role as an integrator of multiple environmental stimuli contributing toward VH.

Global burden of irritable bowel syndrome: trends, predictions and risk factors

An overview of the global burden of irritable bowel syndrome is provided in a global context, to discuss future implications for the care of people with IBS worldwide, and to identify key areas for further research.

Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes

This review highlights the systemic and structural heart manifestations of the cardiac ion channelopathies, including their phenotypic spectrum and molecular basis.

Disorders of gastrointestinal hypomotility

Considering the role of visceral input in emotion and the effects of emotion on visceral activity, understanding and managing hypomotility disorders requires an integrative approach based on the mind-body continuum or biopsychosocial model of diseases.

Marine Toxins and Nociception: Potential Therapeutic Use in the Treatment of Visceral Pain Associated with Gastrointestinal Disorders

The most recent literature describing the effects of marine toxin on gastrointestinal visceral pain pathways and the possible clinical implications in the treatment of chronic pain associated with gut diseases is reported.

Irritable bowel syndrome in adults: symptoms, treatment and management.

  • Rhian Sunderland
  • Medicine
    Nursing standard (Royal College of Nursing (Great Britain) : 1987)
  • 2017
This article aims to inform readers about the symptoms and sub-classifications of IBS and the range of pharmacological and non-pharmacological treatments available, to enable nurses to understand and manage symptoms of the condition in this group of patients.

The expanding phenotypes of cohesinopathies: one ring to rule them all!

The human phenotypes observed in CdLS, CAID syndrome and other cohesinopathies can inform future studies into the less well-known non-cohesion-related functions of cohesIn complex genes, which are associated with an increasing number of diseases.



Gastrointestinal Symptoms in Families of Patients with an SCN5A-Encoded Cardiac Channelopathy: Evidence of an Intestinal Channelopathy

This study is the first to suggest an association between a well-defined cardiac channelopathy and GI symptoms, and the role of sodium channelopathies in the pathogenesis of digestive diseases merits exploration.

Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome.

Findings provide a new pathogenic mechanism for IBS and possible treatment options and suggest about 2% of patients with IBS carry mutations in SCN5A that disrupt NaV1.5 channel function.

A Mutation in Telethonin Alters Nav1.5 Function*

Results suggest a new role for telethonin, namely that teleth onin is a sodium channel-interacting protein, which can alter Nav1.5 kinetics and may play a role in intestinal pseudo-obstruction.

Mouse models of SCN5A-related cardiac arrhythmias.

Mouse Models of SCN5A-Related Cardiac Arrhythmias

Mutations of SCN5A gene, which encodes the α-subunit of the voltage-gated Na+ channel NaV1.5, underlie hereditary cardiac arrhythmic syndromes such as the type 3 long QT syndrome, cardiac conduction

The Relationship Between Gastric Myoelectric Activity and SCN5A Mutation Suggesting Sodium Channelopathy in Patients With Brugada Syndrome and Functional Dyspepsia - A Pilot Study

It is meaningful to attempt to identify differences in symptoms and gastric myoelectric activity according to the presence of an SCN5A mutation by EGG analysis, and the relationship between FD and sodium channelopathy should be elucidated in the future by a large-scale study.

Phenotypical Manifestations of Mutations in the Genes Encoding Subunits of the Cardiac Sodium Channel

Variations in the gene encoding for the major sodium channel in the heart, SCN5A, has been shown to cause a number of arrhythmia syndromes, including the long-QT syndrome (type 3), Brugada syndrome, (progressive) cardiac conduction disease, sinus node dysfunction, atrial fibrillation,Atrial standstill, and dilated cardiomyopathy.

SCN5A channelopathies--an update on mutations and mechanisms.

SCN4B-Encoded Sodium Channel &bgr;4 Subunit in Congenital Long-QT Syndrome

A case of a 21-month-old Mexican-mestizo female with intermittent 2:1 atrioventricular block and a corrected QT interval and the seminal report of SCN4B-encoded Nav&bgr;4 as a novel LQT3-susceptibility gene is provided.