Special Issue "Ion Channels and Disease: Genetic and Transcriptional Channelopathies"

A special issue of Biology (ISSN 2079-7737).

Deadline for manuscript submissions: closed (31 March 2017).

Special Issue Editors

Prof. Dr. Fabio Franciolini
Website
Guest Editor
Department of Chemistry Biology and Biotechnology, University of Perugia, Perugia 06100, Italy
Interests: ion channels; channelopathies; brain tumor
Dr. Luigi Catacuzzeno
Website
Guest Editor
Department of Chemistry Biology and Biotechnology, University of Perugia, Perugia 06100, Italy
Interests: ion channels; channelopathies; brain tumor

Special Issue Information

Dear Colleagues,

Ion channels are membrane proteins that control several vital physiological functions in all cells. Defects in their function often result in disease states, now also designated as channelopathies. There are two main types of channelopathy: genetic and transcriptional. The former occurs when ion channels dysfunction results from a mutated protein, due to mutations in the coding region of its gene. Certain ataxias, arrithmias, and migraine, are some examples. More recently disorders caused by the abnormal expression of non-mutated channel genes have been reported. In this case, the disorders may either originate from a genetic mutation in the promoter region of the channel gene, in a gene coding for a non-channel protein, or may even have a non-genetic origin. These disorders have come to be identified as transcriptional channelopathies, and are most typical of cancer where ion channels are often found abnormally expressed. This Special Issue welcomes review articles on genetic and transcriptional channelopathies with the aim of updating the state-of-the-art in the area and provide a useful reference on these channelopathies.

Prof. Dr. Fabio Franciolini
Dr. Luigi Catacuzzeno
Guest Editors

Manuscript Submission Information

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Keywords

  • Ion channels
  • genetic channelopathies
  • transcriptional channelopathies
  • disease
  • gene mutations
  • protein expression

Published Papers (1 paper)

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Review

Open AccessReview
Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances
Biology 2017, 6(1), 7; https://doi.org/10.3390/biology6010007 - 29 Jan 2017
Cited by 38
Abstract
Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden cardiac death in older and younger individuals. Two groups of familial diseases are responsible for [...] Read more.
Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden cardiac death in older and younger individuals. Two groups of familial diseases are responsible for sudden cardiac death: cardiomyopathies (mainly hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy) and channelopathies (mainly long QT syndrome, Brugada syndrome, short QT syndrome, and catecholaminergic polymorphic ventricular tachycardia). This review focuses on cardiac channelopathies, which are characterized by lethal arrhythmias in the structurally normal heart, incomplete penetrance, and variable expressivity. Arrhythmias in these diseases result from pathogenic variants in genes encoding cardiac ion channels or associated proteins. Due to a lack of gross structural changes in the heart, channelopathies are often considered as potential causes of death in otherwise unexplained forensic autopsies. The asymptomatic nature of channelopathies is cause for concern in family members who may be carrying genetic risk factors, making the identification of these genetic factors of significant clinical importance. Full article
(This article belongs to the Special Issue Ion Channels and Disease: Genetic and Transcriptional Channelopathies)
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