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Antioxidants
Special Issues
Oxidative Stress in Rare Diseases: Mechanisms, Implications, and Therapeutic Opportunities
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Oxidative Stress in Rare Diseases: Mechanisms, Implications, and Therapeutic Opportunities

A special issue of Antioxidants (ISSN 2076-3921).

Deadline for manuscript submissions: 30 April 2025 | Viewed by 650

Special Issue Editors

Dr. Christophe Desterke

E-Mail
Guest Editor
Faculté de Médecine du Kremlin Bicêtre, Université Paris-Saclay, 94270 Le Kremlin-Bicêtre, France
Interests: hepatoblastoma; cancer; rare diseases; oxidative stress; bioinformatics
Dr. Jorge Mata-Garrido

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Guest Editor Assistant
INSERM U993, Unité Organisation Nucléaire et Oncogenèse, Institut Pasteur, Université Paris Cité, 75006 Paris, France
Interests: metabolism; epigenetics; cancer; hepatoblastoma; liver cancer
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The role of oxidative stress in rare diseases offers a compelling avenue to explore how imbalances in cellular redox states contribute to unique disease mechanisms, potential biomarkers, and innovative therapies. In rare diseases, oxidative damage is often amplified, disrupting cellular functions and accelerating disease progression. Investigating oxidative biomarkers, such as lipid peroxides, oxidized DNA, and impaired antioxidant responses, provides critical insights into disease etiology and offers tools for monitoring treatment responses. This Special Issue invites studies that explore how oxidative stress shapes these diverse pathologies, guiding novel therapeutic strategies which target redox imbalances. Research in this field is particularly challenging yet valuable, as rare diseases frequently share underlying oxidative stress mechanisms despite diverse genetic, epigenetic, or environmental origins. Studying these pathways not only sheds light on the distinct molecular features of rare diseases but also enriches our understanding of human biology by examining how oxidative stress contributes to cellular dysregulation. This Special Issue welcomes comprehensive studies on the mechanistic role of oxidative stress in rare diseases, highlighting therapeutic opportunities which may ultimately pave the way for better patient outcomes.

We invite contributions to this Special Issue that will showcase a dynamic collection of experimental findings, reviews, and commentaries focused on the impact of oxidative stress, free radicals, and antioxidant pathways in rare diseases. By bringing together diverse perspectives and novel data, this issue aims to deepen our understanding of these diseases through the lens of redox biology, offering fresh insights into their mechanisms and therapeutic potential.

Dr. Christophe Desterke
Guest Editor

Dr. Jorge Mata-Garrido
Guest Editor Assistant

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. Antioxidants 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 2900 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

  • rare diseases
  • oxidative stress
  • free radicals
  • biomedicine
  • redox biomarkers
  • redox epigenetics
  • redox metabolism
  • redox control of protein function
  • ferroptosis

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Published Papers (1 paper)

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25 pages, 11151 KiB  
Article
Ferroptosis Transcriptional Regulation and Prognostic Impact in Medulloblastoma Subtypes Revealed by RNA-Seq
by Christophe Desterke, Yuanji Fu, Jenny Bonifacio-Mundaca, Claudia Monge, Pascal Pineau, Jorge Mata-Garrido and Raquel Francés
Antioxidants 2025, 14(1), 96; https://doi.org/10.3390/antiox14010096 - 15 Jan 2025
Viewed by 515
Abstract
Medulloblastoma (MB) is the most common malignant brain tumor in children, typically arising during infancy and childhood. Despite multimodal therapies achieving a response rate of 70% in children older than 3 years, treatment remains challenging. Ferroptosis, a form of regulated cell death, can [...] Read more.
Medulloblastoma (MB) is the most common malignant brain tumor in children, typically arising during infancy and childhood. Despite multimodal therapies achieving a response rate of 70% in children older than 3 years, treatment remains challenging. Ferroptosis, a form of regulated cell death, can be induced in medulloblastoma cells in vitro using erastin or RSL3. Using two independent medulloblastoma RNA-sequencing cohorts (MB-PBTA and MTAB-10767), we investigated the expression of ferroptosis-related molecules through multiple approaches, including Weighted Gene Co-Expression Network Analysis (WGCNA), molecular subtype stratification, protein–protein interaction (PPI) networks, and univariable and multivariable overall survival analyses. A prognostic expression score was computed based on a cross-validated ferroptosis signature. In training and validation cohorts, the regulation of the ferroptosis transcriptional program distinguished the four molecular subtypes of medulloblastoma. WGCNA identified nine gene modules in the MB tumor transcriptome; five correlated with molecular subtypes, implicating pathways related to oxidative stress, hypoxia, and trans-synaptic signaling. One module, associated with disease recurrence, included epigenetic regulators and nucleosome organizers. Univariable survival analyses identified a 45-gene ferroptosis prognostic signature associated with nutrient sensing, cysteine and methionine metabolism, and trans-sulfuration within a one-carbon metabolism. The top ten unfavorable ferroptosis genes included CCT3, SNX5, SQOR, G3BP1, CARS1, SLC39A14, FAM98A, FXR1, TFAP2C, and ATF4. Patients with a high ferroptosis score showed a worse prognosis, particularly in the G3 and SHH subtypes. The PPI network highlighted IL6 and CBS as unfavorable hub genes. In a multivariable overall survival model, which included gender, age, and the molecular subtype classification, the ferroptosis expression score was validated as an independent adverse prognostic marker (hazard ratio: 5.8; p-value = 1.04 × 10−9). This study demonstrates that the regulation of the ferroptosis transcriptional program is linked to medulloblastoma molecular subtypes and patient prognosis. A cross-validated ferroptosis signature was identified in two independent RNA-sequencing cohorts, and the ferroptosis score was confirmed as an independent and adverse prognostic factor in medulloblastoma. Full article
(This article belongs to the Special Issue Oxidative Stress in Rare Diseases: Mechanisms, Implications, and Therapeutic Opportunities)
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