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Antioxidants
Special Issues
Oxidative Stress and Rare Diseases
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Oxidative Stress and Rare Diseases

A special issue of Antioxidants (ISSN 2076-3921). This special issue belongs to the section "Health Outcomes of Antioxidants and Oxidative Stress".

Deadline for manuscript submissions: closed (15 May 2020) | Viewed by 36305

Special Issue Editors

Dr. José Luis García-Giménez

E-Mail Website
Guest Editor
1. Department of Physiology, Faculty of Medicine and Dentistry, University of Valencia, Valencia, Spain
2. FIHCUV-INCLIVA, 46010 Valencia, Spain
3. Rare Diseases Biomedical Research Networking Centre (CIBERER), The Institute of Health Carlos III (ISCIII), 28029 Madrid, Spain
4. EpiDisease, S.L., 46980 Valencia, Spain
Interests: rare diseases; epigenetics; molecular biomarkers; DNA methylation; microRNA; histones; mass spectrometry and next generation sequencing
Special Issues, Collections and Topics in MDPI journals
Dr. Carlos Romá-Mateo

E-Mail Website
Guest Editor
1. Department of Physiology, Faculty of Medicine and Dentistry, University of Valencia, Spain and FIHCUV-INCLIVA, 46010 Valencia, Spain
2. Rare Diseases Biomedical Research Networking Centre (CIBERER), The Institute of Health Carlos III (ISCIII), 28029 Madrid, Spain
Interests: biomedicine; neurodegenerative diseases; biochemistry; intracellular signaling pathways; protein degradation; epigenetics; oxidative stress
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Oxidative stress has always constituted a challenging topic in the biomedical field, shifting from pathological aberrant conditions for cell integrity, towards myriad physiological roles which span between health and disease states. Molecular pathways underlying free radical signaling provide interesting and sometimes unexpected pathways through which information about the pathophysiology of disease can be gathered but also facilitate multiple parameters that bear critical insights into disease progression and monitoring of treatments. In this regard, the dissection of oxidative stress pathways in the context of human disease continues to harbor a critical value for biomedical research. It is not surprising that studies based on the production of free radical species, oxidative products (i.e., lipoperoxides, oxidized DNA or RNA bases, oxidized proteins) or impairment in the antioxidant cellular machinery have proliferated in the field of rare diseases, where any little bit of information is especially useful to dissect the complex and often cryptic etiology of these pathologies. Research in rare diseases, as a collective group of pathologies, is also a challenging subject, since they are strikingly different in their genetic, epigenetic or environmental causative agents but share cellular abnormalities and pathological consequences. These can be used to enrich our vision of the general landscape of human biology, since they are models of spontaneously altered molecular pathways.

We invite you to contribute to this Special Issue, in order to compose a diverse and surprising set of experimental data, literature reviews or comments that will boost our understanding of rare diseases from the perspective of oxidative stress, free radicals, and antioxidant molecular pathways.

Dr. José Luis García-Giménez
Dr. Carlos Romá-Mateo
Guest Editors

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
  • Orphan drugs
  • Biomedicine
  • Redox biomarkers
  • Redox epigenetics
  • Redox metabolism
  • Redox control of the protein function

Published Papers (7 papers)

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Editorial

Jump to: Review

2 pages, 188 KiB  
Editorial
Oxidative Stress and Rare Diseases: From Molecular Crossroads to Therapeutic Avenues
by Carlos Romá-Mateo and José Luis García-Giménez
Antioxidants 2021, 10(4), 617; https://doi.org/10.3390/antiox10040617 - 16 Apr 2021
Cited by 3 | Viewed by 1685
Abstract
Writing an editorial about rare diseases can become a messy subject from the biological perspective [...] Full article
(This article belongs to the Special Issue Oxidative Stress and Rare Diseases)

Review

Jump to: Editorial

25 pages, 4111 KiB  
Review
Thioredoxin and Glutaredoxin Systems as Potential Targets for the Development of New Treatments in Friedreich’s Ataxia
by Marta Seco-Cervera, Pilar González-Cabo, Federico V. Pallardó, Carlos Romá-Mateo and José Luis García-Giménez
Antioxidants 2020, 9(12), 1257; https://doi.org/10.3390/antiox9121257 - 10 Dec 2020
Cited by 30 | Viewed by 5559
Abstract
The thioredoxin family consists of a small group of redox proteins present in all organisms and composed of thioredoxins (TRXs), glutaredoxins (GLRXs) and peroxiredoxins (PRDXs) which are found in the extracellular fluid, the cytoplasm, the mitochondria and in the nucleus with functions that [...] Read more.
The thioredoxin family consists of a small group of redox proteins present in all organisms and composed of thioredoxins (TRXs), glutaredoxins (GLRXs) and peroxiredoxins (PRDXs) which are found in the extracellular fluid, the cytoplasm, the mitochondria and in the nucleus with functions that include antioxidation, signaling and transcriptional control, among others. The importance of thioredoxin family proteins in neurodegenerative diseases is gaining relevance because some of these proteins have demonstrated an important role in the central nervous system by mediating neuroprotection against oxidative stress, contributing to mitochondrial function and regulating gene expression. Specifically, in the context of Friedreich’s ataxia (FRDA), thioredoxin family proteins may have a special role in the regulation of Nrf2 expression and function, in Fe-S cluster metabolism, controlling the expression of genes located at the iron-response element (IRE) and probably regulating ferroptosis. Therefore, comprehension of the mechanisms that closely link thioredoxin family proteins with cellular processes affected in FRDA will serve as a cornerstone to design improved therapeutic strategies. Full article
(This article belongs to the Special Issue Oxidative Stress and Rare Diseases)
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33 pages, 931 KiB  
Review
Antioxidant Therapies and Oxidative Stress in Friedreich’s Ataxia: The Right Path or Just a Diversion?
by Laura R. Rodríguez, Tamara Lapeña, Pablo Calap-Quintana, María Dolores Moltó, Pilar Gonzalez-Cabo and Juan Antonio Navarro Langa
Antioxidants 2020, 9(8), 664; https://doi.org/10.3390/antiox9080664 - 24 Jul 2020
Cited by 13 | Viewed by 6574
Abstract
Friedreich’s ataxia is the commonest autosomal recessive ataxia among population of European descent. Despite the huge advances performed in the last decades, a cure still remains elusive. One of the most studied hallmarks of the disease is the increased production of oxidative stress [...] Read more.
Friedreich’s ataxia is the commonest autosomal recessive ataxia among population of European descent. Despite the huge advances performed in the last decades, a cure still remains elusive. One of the most studied hallmarks of the disease is the increased production of oxidative stress markers in patients and models. This feature has been the motivation to develop treatments that aim to counteract such boost of free radicals and to enhance the production of antioxidant defenses. In this work, we present and critically review those “antioxidant” drugs that went beyond the disease’s models and were approved for its application in clinical trials. The evaluation of these trials highlights some crucial aspects of the FRDA research. On the one hand, the analysis contributes to elucidate whether oxidative stress plays a central role or whether it is only an epiphenomenon. On the other hand, it comments on some limitations in the current trials that complicate the analysis and interpretation of their outcome. We also include some suggestions that will be interesting to implement in future studies and clinical trials. Full article
(This article belongs to the Special Issue Oxidative Stress and Rare Diseases)
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35 pages, 2050 KiB  
Review
Reactive Species in Huntington Disease: Are They Really the Radicals You Want to Catch?
by José Bono-Yagüe, Ana Pilar Gómez-Escribano, José María Millán and Rafael Pascual Vázquez-Manrique
Antioxidants 2020, 9(7), 577; https://doi.org/10.3390/antiox9070577 - 02 Jul 2020
Cited by 24 | Viewed by 4938
Abstract
Huntington disease (HD) is a neurodegenerative condition and one of the so-called rare or minority diseases, due to its low prevalence (affecting 1–10 of every 100,000 people in western countries). The causative gene, HTT, encodes huntingtin, a protein with a yet unknown [...] Read more.
Huntington disease (HD) is a neurodegenerative condition and one of the so-called rare or minority diseases, due to its low prevalence (affecting 1–10 of every 100,000 people in western countries). The causative gene, HTT, encodes huntingtin, a protein with a yet unknown function. Mutant huntingtin causes a range of phenotypes, including oxidative stress and the activation of microglia and astrocytes, which leads to chronic inflammation of the brain. Although substantial efforts have been made to find a cure for HD, there is currently no medical intervention able to stop or even delay progression of the disease. Among the many targets of therapeutic intervention, oxidative stress and inflammation have been extensively studied and some clinical trials have been promoted to target them. In the present work, we review the basic research on oxidative stress in HD and the strategies used to fight it. Many of the strategies to reduce the phenotypes associated with oxidative stress have produced positive results, yet no substantial functional recovery has been observed in animal models or patients with the disease. We discuss possible explanations for this and suggest potential ways to overcome it. Full article
(This article belongs to the Special Issue Oxidative Stress and Rare Diseases)
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22 pages, 1213 KiB  
Review
The Relevance of Oxidative Stress in the Pathogenesis and Therapy of Retinal Dystrophies
by Elena B. Domènech and Gemma Marfany
Antioxidants 2020, 9(4), 347; https://doi.org/10.3390/antiox9040347 - 23 Apr 2020
Cited by 110 | Viewed by 6207
Abstract
Retinal cell survival requires an equilibrium between oxygen, reactive oxygen species, and antioxidant molecules that counteract oxidative stress damage. Oxidative stress alters cell homeostasis and elicits a protective cell response, which is most relevant in photoreceptors and retinal ganglion cells, neurons with a [...] Read more.
Retinal cell survival requires an equilibrium between oxygen, reactive oxygen species, and antioxidant molecules that counteract oxidative stress damage. Oxidative stress alters cell homeostasis and elicits a protective cell response, which is most relevant in photoreceptors and retinal ganglion cells, neurons with a high metabolic rate that are continuously subject to light/oxidative stress insults. We analyze how the alteration of cellular endogenous pathways for protection against oxidative stress leads to retinal dysfunction in prevalent (age-related macular degeneration, glaucoma) as well as in rare genetic visual disorders (Retinitis pigmentosa, Leber hereditary optic neuropathy). We also highlight some of the key molecular actors and discuss potential therapies using antioxidants agents, modulators of gene expression and inducers of cytoprotective signaling pathways to treat damaging oxidative stress effects and ameliorate severe phenotypic symptoms in multifactorial and rare retinal dystrophies. Full article
(This article belongs to the Special Issue Oxidative Stress and Rare Diseases)
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26 pages, 2658 KiB  
Review
Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration
by Carmen Espinós, Máximo Ibo Galindo, María Adelaida García-Gimeno, José Santiago Ibáñez-Cabellos, Dolores Martínez-Rubio, José María Millán, Regina Rodrigo, Pascual Sanz, Marta Seco-Cervera, Teresa Sevilla, Andrea Tapia and Federico V. Pallardó
Antioxidants 2020, 9(4), 313; https://doi.org/10.3390/antiox9040313 - 15 Apr 2020
Cited by 38 | Viewed by 6945
Abstract
: Oxidative stress is an imbalance between production and accumulation of oxygen reactive species and/or reactive nitrogen species in cells and tissues, and the capacity of detoxifying these products, using enzymatic and non-enzymatic components, such as glutathione. Oxidative stress plays roles in several [...] Read more.
: Oxidative stress is an imbalance between production and accumulation of oxygen reactive species and/or reactive nitrogen species in cells and tissues, and the capacity of detoxifying these products, using enzymatic and non-enzymatic components, such as glutathione. Oxidative stress plays roles in several pathological processes in the nervous system, such as neurotoxicity, neuroinflammation, ischemic stroke, and neurodegeneration. The concepts of oxidative stress and rare diseases were formulated in the eighties, and since then, the link between them has not stopped growing. The present review aims to expand knowledge in the pathological processes associated with oxidative stress underlying some groups of rare diseases: Friedreich’s ataxia, diseases with neurodegeneration with brain iron accumulation, Charcot-Marie-Tooth as an example of rare neuromuscular disorders, inherited retinal dystrophies, progressive myoclonus epilepsies, and pediatric drug-resistant epilepsies. Despite the discrimination between cause and effect may not be easy on many occasions, all these conditions are Mendelian rare diseases that share oxidative stress as a common factor, and this may represent a potential target for therapies. Full article
(This article belongs to the Special Issue Oxidative Stress and Rare Diseases)
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13 pages, 327 KiB  
Review
Mitoprotective Clinical Strategies in Type 2 Diabetes and Fanconi Anemia Patients: Suggestions for Clinical Management of Mitochondrial Dysfunction
by Giovanni Pagano, Federico V. Pallardó, Beatriz Porto, Maria Rosa Fittipaldi, Alex Lyakhovich and Marco Trifuoggi
Antioxidants 2020, 9(1), 82; https://doi.org/10.3390/antiox9010082 - 18 Jan 2020
Cited by 6 | Viewed by 3496
Abstract
Oxidative stress (OS) and mitochondrial dysfunction (MDF) occur in a number of disorders, and several clinical studies have attempted to counteract OS and MDF by providing adjuvant treatments against disease progression. The present review is aimed at focusing on two apparently distant diseases, [...] Read more.
Oxidative stress (OS) and mitochondrial dysfunction (MDF) occur in a number of disorders, and several clinical studies have attempted to counteract OS and MDF by providing adjuvant treatments against disease progression. The present review is aimed at focusing on two apparently distant diseases, namely type 2 diabetes (T2D) and a rare genetic disease, Fanconi anemia (FA). The pathogenetic links between T2D and FA include the high T2D prevalence among FA patients and the recognized evidence for OS and MDF in both disorders. This latter phenotypic/pathogenetic feature—namely MDF—may be regarded as a mechanistic ground both accounting for the clinical outcomes in both diseases, and as a premise to clinical studies aimed at counteracting MDF. In the case for T2D, the working hypothesis is raised of evaluating any in vivo decrease of mitochondrial cofactors, or mitochondrial nutrients (MNs) such as α-lipoic acid, coenzyme Q10, and l-carnitine, with possibly combined MN-based treatments. As for FA, the established knowledge of MDF, as yet only obtained from in vitro or molecular studies, prompts the requirement to ascertain in vivo MDF, and to design clinical studies aimed at utilizing MNs toward mitigating or delaying FA’s clinical progression. Altogether, this paper may contribute to building hypotheses for clinical studies in a number of OS/MDF-related diseases. Full article
(This article belongs to the Special Issue Oxidative Stress and Rare Diseases)
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