Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement.
DNA repeat expansion disorders
FXTAS
Friedreich’s ataxia
Huntington’s disease
NRF2
fragile X syndrome
myotonic dystrophy
oxidative stress
spinal and bulbar muscular atrophy
spinocerebellar ataxia
Journal
Biomolecules
ISSN: 2218-273X
Titre abrégé: Biomolecules
Pays: Switzerland
ID NLM: 101596414
Informations de publication
Date de publication:
01 05 2020
01 05 2020
Historique:
received:
10
04
2020
revised:
24
04
2020
accepted:
27
04
2020
entrez:
7
5
2020
pubmed:
7
5
2020
medline:
7
4
2021
Statut:
epublish
Résumé
DNA repeat expansion disorders are a group of neuromuscular and neurodegenerative diseases that arise from the inheritance of long tracts of nucleotide repetitions, located in the regulatory region, introns, or inside the coding sequence of a gene. Although loss of protein expression and/or the gain of function of its transcribed mRNA or translated product represent the major pathogenic effect of these pathologies, mitochondrial dysfunction and imbalance in redox homeostasis are reported as common features in these disorders, deeply affecting their severity and progression. In this review, we examine the role that the redox imbalance plays in the pathological mechanisms of DNA expansion disorders and the recent advances on antioxidant treatments, particularly focusing on the expression and the activity of the transcription factor NRF2, the main cellular regulator of the antioxidant response.
Identifiants
pubmed: 32369911
pii: biom10050702
doi: 10.3390/biom10050702
pmc: PMC7277112
pii:
doi:
Substances chimiques
NF-E2-Related Factor 2
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
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