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Genetics and Epigenetics of Neurodegenerative Diseases

A special issue of Current Issues in Molecular Biology (ISSN 1467-3045). This special issue belongs to the section "Biochemistry, Molecular and Cellular Biology".

Deadline for manuscript submissions: 15 November 2024 | Viewed by 953

Special Issue Editor


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Guest Editor
Department Biological, Geological and Environmental Sciences, University of Catania, 95124 Catania, Italy
Interests: genetics; genomics; molecular cytogenetics; chromosomes; nuclear chromatin organization; evolutionary genetics; developmental genetics; forensic genetics; environmental mutagenesis; epigenetics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

For numerous neurodegenerative diseases, the precise molecular mechanisms initiating these conditions remain unclear. Understanding these mechanisms, especially those manifesting in the early stages of the diseases, is crucial for the development of safe and effective treatments, as well as the implementation of suitable preventive measures. In addition to numerous genes involved in neurodegenerative processes, epigenetic alterations of DNA and DNA-associated proteins are often associated with such pathological conditions. Furthermore, lifestyle choices such as diet, drug abuse, alcohol use, and environmental pollution likely contribute to the onset of neurodegenerative diseases.

In this Special Issue, we invite you to submit original research articles or literature reviews that provide cutting-edge insights into the molecular events underlying neurodegeneration. We welcome contributions that shed light on the genetic and epigenetic basis of neurodegenerative diseases, as well as articles describing natural compounds with neuroprotective effects that can be utilized as molecules to prevent neurodegenerative phenomena.

Prof. Dr. Salvatore Saccone
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. Current Issues in Molecular Biology 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 2200 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

  • genetics
  • neurodegenerative diseases
  • Alzheimer disease

Published Papers (1 paper)

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Research

14 pages, 2630 KiB  
Article
Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy
by Mirella Vinci, Girolamo Aurelio Vitello, Donatella Greco, Simone Treccarichi, Alda Ragalmuto, Antonino Musumeci, Antonio Fallea, Concetta Federico, Francesco Calì, Salvatore Saccone and Maurizio Elia
Curr. Issues Mol. Biol. 2024, 46(2), 1150-1163; https://doi.org/10.3390/cimb46020073 - 29 Jan 2024
Viewed by 768
Abstract
Ion channelopathies result from impaired ion channel protein function, due to mutations affecting ion transport across cell membranes. Over 40 diseases, including neuropathy, pain, migraine, epilepsy, and ataxia, are associated with ion channelopathies, impacting electrically excitable tissues and significantly affecting skeletal muscle. Gene [...] Read more.
Ion channelopathies result from impaired ion channel protein function, due to mutations affecting ion transport across cell membranes. Over 40 diseases, including neuropathy, pain, migraine, epilepsy, and ataxia, are associated with ion channelopathies, impacting electrically excitable tissues and significantly affecting skeletal muscle. Gene mutations affecting transmembrane ionic flow are strongly linked to skeletal muscle disorders, particularly myopathies, disrupting muscle excitability and contraction. Electromyography (EMG) analysis performed on a patient who complained of weakness and fatigue revealed the presence of primary muscular damage, suggesting an early-stage myopathy. Whole exome sequencing (WES) did not detect potentially causative variants in known myopathy-associated genes but revealed a novel homozygous deletion of the P2RX6 gene likely disrupting protein function. The P2RX6 gene, predominantly expressed in skeletal muscle, is an ATP-gated ion channel receptor belonging to the purinergic receptors (P2RX) family. In addition, STRING pathways suggested a correlation with more proteins having a plausible role in myopathy. No previous studies have reported the implication of this gene in myopathy. Further studies are needed on patients with a defective ion channel pathway, and the use of in vitro functional assays in suppressing P2RX6 gene expression will be required to validate its functional role. Full article
(This article belongs to the Special Issue Genetics and Epigenetics of Neurodegenerative Diseases)
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