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.

Oxidative stress in DNA repeat expansion disorders: a focus on NRF2 signaling involvement / La Rosa, Piergiorgio; Petrillo, Sara; Bertini, Enrico Silvio; Piemonte, Fiorella. - In: BIOMOLECULES. - ISSN 2218-273X. - 10:5(2020). [10.3390/biom10050702]

Oxidative stress in DNA repeat expansion disorders: a focus on NRF2 signaling involvement

La Rosa, Piergiorgio;
2020

Abstract

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.
2020
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
01 Pubblicazione su rivista::01g Articolo di rassegna (Review)
Oxidative stress in DNA repeat expansion disorders: a focus on NRF2 signaling involvement / La Rosa, Piergiorgio; Petrillo, Sara; Bertini, Enrico Silvio; Piemonte, Fiorella. - In: BIOMOLECULES. - ISSN 2218-273X. - 10:5(2020). [10.3390/biom10050702]
File allegati a questo prodotto
File Dimensione Formato  
LaRosa_Oxidative-stress_2020.pdf

accesso aperto

Tipologia: Versione editoriale (versione pubblicata con il layout dell'editore)
Licenza: Creative commons
Dimensione 8.69 MB
Formato Adobe PDF
8.69 MB Adobe PDF

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1478446
Citazioni
  • ???jsp.display-item.citation.pmc??? 9
  • Scopus 17
  • ???jsp.display-item.citation.isi??? 14
social impact