Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
9.0
4.9
Journals
IJMS
Special Issues
Multiple Sclerosis: From Molecular Mechanisms to Pathophysiology
ijms-logo
Submit to Special Issue Submit Abstract to Special Issue Review for IJMS Propose a Special Issue

Journal Menu

► Journal Menu

Journal Browser

► Journal Browser
share announcement

Multiple Sclerosis: From Molecular Mechanisms to Pathophysiology

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: 20 July 2025 | Viewed by 374

Special Issue Editor

Dr. Paolo Ragonese

E-Mail Website
Guest Editor
Department of Experimental Medicine and Clinical Neurosciences, Università degli Studi di Palermo, Palermo, Italy
Interests: neurological disorders; neuroepidemiology; multiple scleorsis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue, Multiple Sclerosis: From Molecular Mechanisms to Pathophysiology, provides an in-depth exploration of the latest research around multiple sclerosis (MS), shedding light on the molecular underpinnings and complex biological processes involved in its pathogenesis. Contributions from leading experts will highlight the most recent advances in understanding the immune-mediated and neurodegenerative aspects of MS. This issue will cover a wide range of topics, including the role of genetic and environmental factors, cellular signaling pathways, blood–brain barrier involvement, and novel insights into immune cell behavior. It will also emphasize emerging biomarkers for disease diagnosis and monitoring, therapeutic strategies, and the potential for precision medicine in MS management. By bridging molecular and cellular research with clinical implications, this Special Issue aims to provide a translational perspective focused on the mechanisms driving MS to offer new directions for future research and possible therapeutic strategies aimed at preventing MS development and progression.

Dr. Paolo Ragonese
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • multiple sclerosis
  • pathogenesis, blood–brain barrier
  • cellular pathways
  • neurodegeneration
  • biomarkers
  • gene–environment interaction
  • astrocytes
  • glia

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (1 paper)

Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

18 pages, 538 KiB  
Article
Polymorphisms in Base Excision Repair Genes and Association with Multiple Sclerosis in a Pilot Study on a Central European Population
by Beata Filipek, Anna Macieja, Aleksandra Binda, Elzbieta Miller, Mariola Swiderek-Matysiak, Mariusz Stasiolek, Maksymilian Stela, Ireneusz Majsterek and Tomasz Poplawski
Int. J. Mol. Sci. 2025, 26(14), 6612; https://doi.org/10.3390/ijms26146612 - 10 Jul 2025
Viewed by 204
Abstract
Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system characterized by demyelination and neurodegeneration. While its etiology remains unclear, both genetic and environmental factors, including oxidative stress, have been implicated in the development of the disease. The base excision [...] Read more.
Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system characterized by demyelination and neurodegeneration. While its etiology remains unclear, both genetic and environmental factors, including oxidative stress, have been implicated in the development of the disease. The base excision repair (BER) pathway plays a critical role in repairing oxidative DNA damage. This study investigated the association between polymorphisms in BER-related genes and MS susceptibility in a Central European population. Ten SNPs across seven BER genes were genotyped in 102 patients with MS and 118 healthy controls. Six SNPs were significantly associated with MS. Increased risk was observed for rs25478 in XRCC1 (OR = 2.37, 95% CI: 1.44–3.91, p < 0.0001), rs3087404 in SMUG1 (OR = 2.80, 95% CI: 1.49–5.26, p = 0.0012), and rs3219493 in MUTYH (OR = 2.23, 95% CI: 1.35–3.67, p = 0.0018). Conversely, reduced risk was associated with rs2307293 in MBD4 (OR = 0.42, 95% CI: 0.23–0.78, p = 0.006), rs3219489 in MUTYH (OR = 0.55, 95% CI: 0.31–0.97, p = 0.038), and rs4135054 in TDG (OR = 0.52, 95% CI: 0.29–0.94, p = 0.031). Haplotype analysis was performed for SNPs in strong linkage disequilibrium. Only rs3219489 and rs3219472 within the MUTYH gene showed strong LD (r2 = 0.90), justifying haplotype-based analysis. Among four inferred haplotypes, the rare G–C haplotype was significantly associated with reduced MS risk (Score = −2.10, p = 0.035), suggesting a protective effect of this allele combination. Other SNPs not in LD were analyzed using a multivariable logistic regression model. Significant associations with decreased MS risk were found for rs1052133 in OGG1 (OR = 0.57, p = 0.043), rs2307293 in MBD4 (OR = 0.16, p = 0.010), and rs4135054 in TDG (OR = 0.38, p < 0.001), while rs3087404 in SMUG1 increased MS risk (OR = 1.98, p = 0.013). These results suggest that genetic variation in BER genes, including both single SNP effects and haplotypes, contributes to MS susceptibility. Further studies are warranted to explore the functional consequences of these variants and validate findings in larger, independent cohorts. Full article
(This article belongs to the Special Issue Multiple Sclerosis: From Molecular Mechanisms to Pathophysiology)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-1
Back to TopTop