The main cause of Rett syndrome (RTT), a pervasive development disorder almost exclusively affecting females, is a mutation in the methyl-CpG binding protein 2 (MeCP2) gene. To date, no cure for RTT exists, although disease reversibility has been demonstrated in animal models. Emerging evidence from our and other laboratories indicates a potential role of oxidative stress (OS) in RTT. This review examines the current state of the knowledge on the role of OS in explaining the natural history, genotype-phenotype correlation, and clinical heterogeneity of the human disease. Biochemical evidence of OS appears to be related to neurological symptom severity, mutation type, and clinical presentation. These findings pave the way for potential new genetic downstream therapeutic strategies aimed at improving patient quality of life. Further efforts in the near future are needed for investigating the yet unexplored "black box" between the MeCP2 gene mutation and subsequent OS derangement. © 2012 New York Academy of Sciences.

De Felice, C., Signorini, C., Leoncini, S., Pecorelli, A., Durand, T., Valacchi, G., et al. (2012). The role of oxidative stress in Rett syndrome: an overview. ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1259(1), 121-135 [10.1111/j.1749-6632.2012.06611.x].

The role of oxidative stress in Rett syndrome: an overview

Signorini, C.;Leoncini, S.;Ciccoli, L.;
2012-01-01

Abstract

The main cause of Rett syndrome (RTT), a pervasive development disorder almost exclusively affecting females, is a mutation in the methyl-CpG binding protein 2 (MeCP2) gene. To date, no cure for RTT exists, although disease reversibility has been demonstrated in animal models. Emerging evidence from our and other laboratories indicates a potential role of oxidative stress (OS) in RTT. This review examines the current state of the knowledge on the role of OS in explaining the natural history, genotype-phenotype correlation, and clinical heterogeneity of the human disease. Biochemical evidence of OS appears to be related to neurological symptom severity, mutation type, and clinical presentation. These findings pave the way for potential new genetic downstream therapeutic strategies aimed at improving patient quality of life. Further efforts in the near future are needed for investigating the yet unexplored "black box" between the MeCP2 gene mutation and subsequent OS derangement. © 2012 New York Academy of Sciences.
2012
De Felice, C., Signorini, C., Leoncini, S., Pecorelli, A., Durand, T., Valacchi, G., et al. (2012). The role of oxidative stress in Rett syndrome: an overview. ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1259(1), 121-135 [10.1111/j.1749-6632.2012.06611.x].
File in questo prodotto:
File Dimensione Formato  
NYAS De Felice et al..pdf

non disponibili

Tipologia: Post-print
Licenza: NON PUBBLICO - Accesso privato/ristretto
Dimensione 560.21 kB
Formato Adobe PDF
560.21 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

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/11365/33341
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo