Journal of Personalized Medicine

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Special Issue Editor

Prof. Dr. Jean-François Desaphy

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Department of Precision and Regenerative Medicine, School of Medicine, University of Bari Aldo Moro, 70124 Bari, Italy
Interests: ion channels; rare diseases; skeletal muscle; channelopathies; sodium channels; chloride channels; drug development; local anesthetics; pain; muscle atrophy
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Special Issue Information

Dear colleagues,

In the human genome, more than 400 genes encode ion channel subunits. They are expressed in all cell types, contribute to many cellular functions, and, thus, are involved in many diseases. Drugs acting on ion channels have long been used for the treatment of many diseases, especially those affecting excitable tissues such as neurological, cardiovascular, and neuromuscular diseases. More recently, growing evidence supports a role for ion channels in cancer, inflammation, immunomodulation, and pathogen infection. In addition, mutations in ion channel genes are responsible for a great number of rare diseases, so-called ion channelopathies. There are more and more studies reporting the modulating effects of ion channel gene mutations or polymorphisms on the individual response to treatment, thereby contributing to failure or success of therapy. The time is ripe for addressing the pharmacogenetics of ion channels and to develop personalized medicine targeting ion channels.

This topic issue aims at collecting research papers and reviews addressing any aspect regarding the potential contribution of ion channels to personalized medicine, including predictive biomarkers used in treatment decision, pharmacogenetics, drug resistance, treatment efficacy and toxicity, drug development, and targeted and adjuvant therapies.

Prof. Jean-François Desaphy
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

personalized medicine
pharmacogenetics
precision medicine
ion channel polymorphisms and mutations
ion channelopathies
channelomics
drug resistance
predictive biomarkers

Published Papers (3 papers)

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Research

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20 pages, 3464 KiB

Open AccessArticle

A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response

by Malorie Blancard, Zahia Touat-Hamici, Yuriana Aguilar-Sanchez, Liheng Yin, Guy Vaksmann, Nathalie Roux-Buisson, Véronique Fressart, Isabelle Denjoy, Didier Klug, Nathalie Neyroud, Josefina Ramos-Franco, Ana Maria Gomez and Pascale Guicheney

J. Pers. Med. 2021, 11(6), 579; https://doi.org/10.3390/jpm11060579 - 20 Jun 2021

Cited by 3 | Viewed by 2357

Abstract

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is triggered by exercise or acute emotion in patients with normal resting electrocardiogram. The major disease-causing gene is RYR2, encoding the cardiac ryanodine receptor (RyR2). We report a novel RYR2 variant, p.Asp3291Val, outside the four CPVT mutation hotspots, in three CPVT families with numerous sudden deaths. This missense variant was first identified in a four-generation family, where eight sudden cardiac deaths occurred before the age of 30 in the context of adrenergic stress. All affected subjects harbored at least one copy of the RYR2 variant. Three affected sisters were homozygous for the variant. The same variant was found in two additional CPVT families. It is located in the helical domain 2 and changes a negatively charged amino acid widely conserved through evolution. Functional analysis of D3291V channels revealed a normal response to cytosolic Ca²⁺, a markedly reduced luminal Ca²⁺ sensitivity and, more importantly, an absence of normal response to 8-bromo-cAMP and forskolin stimulation in both transfected HEK293 and HL-1 cells. Our data support that the D3291V-RyR2 is a loss-of-function RyR2 variant responsible for an atypical form of CPVT inducing a mild dysfunction in basal conditions but leading potentially to fatal events through its unresponsiveness to adrenergic stimulation. Full article

(This article belongs to the Special Issue Ion Channels as Targets of Personalized Medicine)

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Review

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24 pages, 10578 KiB

Open AccessEditor’s ChoiceReview

Ion Channel Involvement in Tumor Drug Resistance

by Concetta Altamura, Paola Gavazzo, Michael Pusch and Jean-François Desaphy

J. Pers. Med. 2022, 12(2), 210; https://doi.org/10.3390/jpm12020210 - 3 Feb 2022

Cited by 15 | Viewed by 3227

Abstract

Over 90% of deaths in cancer patients are attributed to tumor drug resistance. Resistance to therapeutic agents can be due to an innate property of cancer cells or can be acquired during chemotherapy. In recent years, it has become increasingly clear that regulation of membrane ion channels is an important mechanism in the development of chemoresistance. Here, we review the contribution of ion channels in drug resistance of various types of cancers, evaluating their potential in clinical management. Several molecular mechanisms have been proposed, including evasion of apoptosis, cell cycle arrest, decreased drug accumulation in cancer cells, and activation of alternative escape pathways such as autophagy. Each of these mechanisms leads to a reduction of the therapeutic efficacy of administered drugs, causing more difficulty in cancer treatment. Thus, targeting ion channels might represent a good option for adjuvant therapies in order to counteract chemoresistance development. Full article

(This article belongs to the Special Issue Ion Channels as Targets of Personalized Medicine)

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Figure 1

9 pages, 525 KiB

Open AccessReview

Transmembrane Chloride Intracellular Channel 1 (tmCLIC1) as a Potential Biomarker for Personalized Medicine

by Francesca Cianci and Ivan Verduci

J. Pers. Med. 2021, 11(7), 635; https://doi.org/10.3390/jpm11070635 - 5 Jul 2021

Cited by 5 | Viewed by 2478

Abstract

Identification of potential pathological biomarkers has proved to be essential for understanding complex and fatal diseases, such as cancer and neurodegenerative diseases. Ion channels are involved in the maintenance of cellular homeostasis. Moreover, loss of function and aberrant expression of ion channels and transporters have been linked to various cancers, and to neurodegeneration. The Chloride Intracellular Channel 1 (CLIC1), CLIC1 is a metamorphic protein belonging to a partially unexplored protein superfamily, the CLICs. In homeostatic conditions, CLIC1 protein is expressed in cells as a cytosolic monomer. In pathological states, CLIC1 is specifically expressed as transmembrane chloride channel. In the following review, we trace the involvement of CLIC1 protein functions in physiological and in pathological conditions and assess its functionally active isoform as a potential target for future therapeutic strategies. Full article

(This article belongs to the Special Issue Ion Channels as Targets of Personalized Medicine)

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