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Oxidative Stress in Down and Williams-Beuren Syndromes: An Overview

Oxidative stress is the result of an imbalance in the redox state in a cell or a tissue. When the production of free radicals, which are physiologically essential for signaling, exceeds the antioxidant capability, pathological outcomes including oxidative damage to macromolecules, aberrant signaling...

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Detalles Bibliográficos
Autores principales: Ferrari, Marta, Stagi, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8197362/
https://www.ncbi.nlm.nih.gov/pubmed/34073948
http://dx.doi.org/10.3390/molecules26113139
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author Ferrari, Marta
Stagi, Stefano
author_facet Ferrari, Marta
Stagi, Stefano
author_sort Ferrari, Marta
collection PubMed
description Oxidative stress is the result of an imbalance in the redox state in a cell or a tissue. When the production of free radicals, which are physiologically essential for signaling, exceeds the antioxidant capability, pathological outcomes including oxidative damage to macromolecules, aberrant signaling, and inflammation can occur. Down syndrome (DS) and Williams-Beuren syndrome (WBS) are well-known and common genetic conditions with multi-systemic involvement. Their etiology is linked to oxidative stress with important causative genes, such as SOD-1 and NCF-1, respectively, of the diseases being primarily involved in the regulation of the redox state. Early aging, dementia, autoimmunity, and chronic inflammation are some of the main characteristics of these conditions that can be associated with oxidative stress. In recent decades, there has been a growing interest in the possible role of oxidative stress and inflammation in the pathology of these conditions. However, at present, few studies have investigated these correlations. We provide an overview of the current literature concerning the role of oxidative stress and oxidative damage in genetic syndromes with a focus on Down syndrome and WBS. We hope to provide new insights to improve the management of complications related to these diseases.
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spelling pubmed-81973622021-06-13 Oxidative Stress in Down and Williams-Beuren Syndromes: An Overview Ferrari, Marta Stagi, Stefano Molecules Review Oxidative stress is the result of an imbalance in the redox state in a cell or a tissue. When the production of free radicals, which are physiologically essential for signaling, exceeds the antioxidant capability, pathological outcomes including oxidative damage to macromolecules, aberrant signaling, and inflammation can occur. Down syndrome (DS) and Williams-Beuren syndrome (WBS) are well-known and common genetic conditions with multi-systemic involvement. Their etiology is linked to oxidative stress with important causative genes, such as SOD-1 and NCF-1, respectively, of the diseases being primarily involved in the regulation of the redox state. Early aging, dementia, autoimmunity, and chronic inflammation are some of the main characteristics of these conditions that can be associated with oxidative stress. In recent decades, there has been a growing interest in the possible role of oxidative stress and inflammation in the pathology of these conditions. However, at present, few studies have investigated these correlations. We provide an overview of the current literature concerning the role of oxidative stress and oxidative damage in genetic syndromes with a focus on Down syndrome and WBS. We hope to provide new insights to improve the management of complications related to these diseases. MDPI 2021-05-24 /pmc/articles/PMC8197362/ /pubmed/34073948 http://dx.doi.org/10.3390/molecules26113139 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Ferrari, Marta
Stagi, Stefano
Oxidative Stress in Down and Williams-Beuren Syndromes: An Overview
title Oxidative Stress in Down and Williams-Beuren Syndromes: An Overview
title_full Oxidative Stress in Down and Williams-Beuren Syndromes: An Overview
title_fullStr Oxidative Stress in Down and Williams-Beuren Syndromes: An Overview
title_full_unstemmed Oxidative Stress in Down and Williams-Beuren Syndromes: An Overview
title_short Oxidative Stress in Down and Williams-Beuren Syndromes: An Overview
title_sort oxidative stress in down and williams-beuren syndromes: an overview
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8197362/
https://www.ncbi.nlm.nih.gov/pubmed/34073948
http://dx.doi.org/10.3390/molecules26113139
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