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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: 31 October 2026 | Viewed by 10346

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
Cell and Tissue Biology Group, Anatomy and Cell Biology Department, University of Cantabria-IDIVAL, 39011 Santander, Spain
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 250 words) can be sent to the Editorial Office for assessment.

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 (4 papers)

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Research

Jump to: Review

21 pages, 3553 KB  
Article
The c-Abl-RIPK3 Axis Drives Mitochondrial Dysfunction and Impaired Mitophagy in Gaucher Disease Models
by Cristian M. Lamaizon, Renatta Tironi-Hernández, Nohela B. Arévalo, Sebastián D. Ahumada, Daniela A. Gutiérrez, Laura Brito-Fernández, Andrea del Campo, Silvana Zanlungo and Alejandra R. Álvarez
Antioxidants 2026, 15(4), 465; https://doi.org/10.3390/antiox15040465 - 9 Apr 2026
Viewed by 795
Abstract
Gaucher disease (GD) is characterized by the accumulation of glucosylceramide within lysosomes due to mutations in the GBA1 gene, which encodes the enzyme glucocerebrosidase. Current treatments are ineffective for patients suffering from severe neuronopathic forms of the disease. In this context, new therapeutic [...] Read more.
Gaucher disease (GD) is characterized by the accumulation of glucosylceramide within lysosomes due to mutations in the GBA1 gene, which encodes the enzyme glucocerebrosidase. Current treatments are ineffective for patients suffering from severe neuronopathic forms of the disease. In this context, new therapeutic approaches for neuronopathic GD forms are needed. Lysosomal and mitochondrial dysfunction associated with increased oxidative stress and disturbances in the autophagic process have been described in GD. Here, we address c-Abl-RIPK3 signaling and its contribution to the accumulation of dysfunctional mitochondria in GD. Fibroblasts from patients with GBA1 mutations and neurons treated with the glucocerebrosidase inhibitor CBE exhibited alterations in the ΔΨm and mitochondrial morphology, as well as reduced capacity to form autophagosomes. Pharmacological inhibition of c-Abl or RIPK3 restored mitochondrial function and promoted autophagosome formation, along with an increase in autophagic engulfment of mitochondria in both GD models. In conclusion, the c-Abl-RIPK3 signaling pathway contributes to mitochondrial dysfunction and blockade of autophagy components in the mitochondria, both of which are altered in the neuronopathic forms of GD. Full article
(This article belongs to the Special Issue Oxidative Stress in Rare Diseases: Mechanisms, Implications, and Therapeutic Opportunities)
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21 pages, 8718 KB  
Article
Ferroptosis and Charcot–Marie–Tooth Disease 1A: Emerging Evidence for a Pathogenic Association
by Jacob B. White, Kayla L. Sanchez, Antonio Currais, David Soriano-Castell, Pamela Maher and Salvador Soriano
Antioxidants 2025, 14(3), 331; https://doi.org/10.3390/antiox14030331 - 11 Mar 2025
Cited by 2 | Viewed by 4710
Abstract
Charcot–Marie–Tooth disease (CMT) is the most common hereditary peripheral neuropathy worldwide, presenting clinically as muscle weakness that progresses to impaired ambulation or quadriplegia with age. CMT1A, the most common subtype, is caused by a duplication in PMP22, encoding an essential membrane protein for [...] Read more.
Charcot–Marie–Tooth disease (CMT) is the most common hereditary peripheral neuropathy worldwide, presenting clinically as muscle weakness that progresses to impaired ambulation or quadriplegia with age. CMT1A, the most common subtype, is caused by a duplication in PMP22, encoding an essential membrane protein for Schwann cell myelin integrity. While the mechanisms of peripheral neurodegeneration in CMT1A are poorly understood, excessive oxidative stress, particularly lipid peroxidation, is a known pathological feature, and antioxidant therapy has reversed the CMT1A phenotype in a mouse model. For the first time, we define the pathogenic link between CMT1A and ferroptosis, a form of regulated cell death caused by excessive lipid peroxidation and hindered antioxidant defenses. Human-derived CMT1A fibroblasts showed greater susceptibility to RSL3, a pro-ferroptosis agent, compared with controls, alongside several ferroptosis markers, including elevated lipid peroxides and depleted GPX4, a critical anti-ferroptosis repressor. Similarly, transcriptomic analysis of human iPSC-derived Schwann cells revealed elevated ferroptosis activation and cellular stress markers in CMT1A. We propose that chronic, sublethal ferroptotic stress, mediated by lipid peroxide accumulation, depletes antioxidant defenses in CMT1A Schwann cells, leading to decompensation with age, manifesting as symptomatic disease. These results emphasize ferroptosis as a driver of CMT1A pathology, potentially revealing a new therapeutic path. Full article
(This article belongs to the Special Issue Oxidative Stress in Rare Diseases: Mechanisms, Implications, and Therapeutic Opportunities)
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25 pages, 11151 KB  
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
Cited by 3 | Viewed by 2739
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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Review

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30 pages, 1212 KB  
Review
Fabry Disease: A Focus on the Role of Oxidative Stress
by Julia Rydzek, Adrian Muzyka, Krzysztof Majcherczyk, Julia Soczyńska, Wiktor Gawełczyk, Mateusz Żołyniak and Sławomir Woźniak
Antioxidants 2026, 15(2), 168; https://doi.org/10.3390/antiox15020168 - 26 Jan 2026
Viewed by 1263
Abstract
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency, accumulation of globotriaosylceramide (Gb3), and progressive multiorgan involvement. Increasing evidence indicates that oxidative stress plays a central role in disease pathogenesis. This review [...] Read more.
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency, accumulation of globotriaosylceramide (Gb3), and progressive multiorgan involvement. Increasing evidence indicates that oxidative stress plays a central role in disease pathogenesis. This review aims to synthesize current knowledge on the molecular mechanisms underlying oxidative stress, the relevance of oxidative damage biomarkers, and potential therapeutic implications. A comprehensive literature search was conducted in PubMed/MEDLINE, Scopus, Web of Science, and Google Scholar using terms related to Fabry disease, Gb3 metabolism, mitochondrial and endothelial dysfunction, inflammatory signaling, and oxidative stress markers. Clinical, experimental, and translational studies were included. Available data demonstrate that Gb3 accumulation disrupts mitochondrial function and activates NADPH oxidase, NF-κB, and MAPK signaling pathways, resulting in excessive production of reactive oxygen species. These processes contribute to cellular injury, particularly within the cardiovascular, renal, and nervous systems. Biomarkers such as malondialdehyde, 8-hydroxy-2′-deoxyguanosine, glutathione redox status, and antioxidant enzyme activities appear useful for assessing oxidative burden and monitoring therapeutic responses. Overall, current evidence underscores the pivotal role of oxidative stress in the progression of Fabry disease and highlights the need for further research into targeted antioxidant and disease-modifying therapeutic strategies. Full article
(This article belongs to the Special Issue Oxidative Stress in Rare Diseases: Mechanisms, Implications, and Therapeutic Opportunities)
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