Nuclear factor erythroid-2-related factor 2 signaling in the neuropathophysiology of inherited metabolic disorders
| Autor: | Bianca Seminotti, Mateus Grings, Paolo Tucci, Guilhian Leipnitz, Luciano Saso |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Ataxia
Central nervous system Neurosciences. Biological psychiatry. Neuropsychiatry Review Adrenoleucodistrofia Nrf2 signaling Bioinformatics medicine.disease_cause Neuroprotection Cellular and Molecular Neuroscience antioxidant defenses Inherited metabolic disorders medicine Ataxia de Friedreich Neurodegeneration Transcription factor Hiper-homocisteinemia Mechanism (biology) business.industry neurodegeneration neurometabolism inherited metabolic disorders Encefalopatias metabólicas medicine.disease Antioxidant defenses medicine.anatomical_structure Adrenoleukodystrophy medicine.symptom business Fator 2 relacionado a NF-E2 Oxidative stress Neurometabolism RC321-571 Neuroscience |
| Zdroj: | Repositório Institucional da UFRGS Universidade Federal do Rio Grande do Sul (UFRGS) instacron:UFRGS Frontiers in Cellular Neuroscience Frontiers in Cellular Neuroscience, Vol 15 (2021) |
| Popis: | 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-2-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. |
| Databáze: | OpenAIRE |
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