Nuclear Factor Erythroid-Related Factor 2 Signaling in the Neuropathophysiology of Inherited Metabolic Disorders

Inherited metabolic disorders (IMDs) are rare genetic conditions that affect multiple organs, predominantly the central nervous system. Since treatment for a large number of IMDs is limited, there is an urgent need to find novel therapeutical targets. Nuclear factor erythroid-related factor 2 (Nrf2)...

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Autores principales:	Bianca Seminotti, Mateus Grings, Paolo Tucci, Guilhian Leipnitz, Luciano Saso
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	Nrf2 signaling antioxidant defenses inherited metabolic disorders neurometabolism neurodegeneration Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Acceso en línea:	https://doaj.org/article/35e0b41a75c444569c68f800a18d11db
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spelling	oai:doaj.org-article:35e0b41a75c444569c68f800a18d11db2021-12-01T08:21:02ZNuclear Factor Erythroid-Related Factor 2 Signaling in the Neuropathophysiology of Inherited Metabolic Disorders1662-510210.3389/fncel.2021.785057https://doaj.org/article/35e0b41a75c444569c68f800a18d11db2021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fncel.2021.785057/fullhttps://doaj.org/toc/1662-5102Inherited metabolic disorders (IMDs) are rare genetic conditions that affect multiple organs, predominantly the central nervous system. Since treatment for a large number of IMDs is limited, there is an urgent need to find novel therapeutical targets. Nuclear factor erythroid-related factor 2 (Nrf2) is a transcription factor that has a key role in controlling the intracellular redox environment by regulating the expression of antioxidant enzymes and several important genes related to redox homeostasis. Considering that oxidative stress along with antioxidant system alterations is a mechanism involved in the neuropathophysiology of many IMDs, this review focuses on the current knowledge about Nrf2 signaling dysregulation observed in this group of disorders characterized by neurological dysfunction. We review here Nrf2 signaling alterations observed in X-linked adrenoleukodystrophy, glutaric acidemia type I, hyperhomocysteinemia, and Friedreich’s ataxia. Additionally, beneficial effects of different Nrf2 activators are shown, identifying a promising target for treatment of patients with these disorders. We expect that this article stimulates research into the investigation of Nrf2 pathway involvement in IMDs and the use of potential pharmacological modulators of this transcription factor to counteract oxidative stress and exert neuroprotection.Bianca SeminottiMateus GringsPaolo TucciGuilhian LeipnitzGuilhian LeipnitzGuilhian LeipnitzLuciano SasoFrontiers Media S.A.articleNrf2 signalingantioxidant defensesinherited metabolic disordersneurometabolismneurodegenerationNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571ENFrontiers in Cellular Neuroscience, Vol 15 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Nrf2 signaling antioxidant defenses inherited metabolic disorders neurometabolism neurodegeneration Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
spellingShingle	Nrf2 signaling antioxidant defenses inherited metabolic disorders neurometabolism neurodegeneration Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Bianca Seminotti Mateus Grings Paolo Tucci Guilhian Leipnitz Guilhian Leipnitz Guilhian Leipnitz Luciano Saso Nuclear Factor Erythroid-Related Factor 2 Signaling in the Neuropathophysiology of Inherited Metabolic Disorders
description	Inherited metabolic disorders (IMDs) are rare genetic conditions that affect multiple organs, predominantly the central nervous system. Since treatment for a large number of IMDs is limited, there is an urgent need to find novel therapeutical targets. Nuclear factor erythroid-related factor 2 (Nrf2) is a transcription factor that has a key role in controlling the intracellular redox environment by regulating the expression of antioxidant enzymes and several important genes related to redox homeostasis. Considering that oxidative stress along with antioxidant system alterations is a mechanism involved in the neuropathophysiology of many IMDs, this review focuses on the current knowledge about Nrf2 signaling dysregulation observed in this group of disorders characterized by neurological dysfunction. We review here Nrf2 signaling alterations observed in X-linked adrenoleukodystrophy, glutaric acidemia type I, hyperhomocysteinemia, and Friedreich’s ataxia. Additionally, beneficial effects of different Nrf2 activators are shown, identifying a promising target for treatment of patients with these disorders. We expect that this article stimulates research into the investigation of Nrf2 pathway involvement in IMDs and the use of potential pharmacological modulators of this transcription factor to counteract oxidative stress and exert neuroprotection.
format	article
author	Bianca Seminotti Mateus Grings Paolo Tucci Guilhian Leipnitz Guilhian Leipnitz Guilhian Leipnitz Luciano Saso
author_facet	Bianca Seminotti Mateus Grings Paolo Tucci Guilhian Leipnitz Guilhian Leipnitz Guilhian Leipnitz Luciano Saso
author_sort	Bianca Seminotti
title	Nuclear Factor Erythroid-Related Factor 2 Signaling in the Neuropathophysiology of Inherited Metabolic Disorders
title_short	Nuclear Factor Erythroid-Related Factor 2 Signaling in the Neuropathophysiology of Inherited Metabolic Disorders
title_full	Nuclear Factor Erythroid-Related Factor 2 Signaling in the Neuropathophysiology of Inherited Metabolic Disorders
title_fullStr	Nuclear Factor Erythroid-Related Factor 2 Signaling in the Neuropathophysiology of Inherited Metabolic Disorders
title_full_unstemmed	Nuclear Factor Erythroid-Related Factor 2 Signaling in the Neuropathophysiology of Inherited Metabolic Disorders
title_sort	nuclear factor erythroid-related factor 2 signaling in the neuropathophysiology of inherited metabolic disorders
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/35e0b41a75c444569c68f800a18d11db
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Nuclear Factor Erythroid-Related Factor 2 Signaling in the Neuropathophysiology of Inherited Metabolic Disorders

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