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A Journal on Pediatrics, Neonatology, Adolescent Medicine,
Child and Adolescent Psychiatry

Indexed/Abstracted in: CAB, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 0,532

Frequency: Bi-Monthly

ISSN 0026-4946

Online ISSN 1827-1715


Minerva Pediatrica 2014 February;66(1):41-62


Oxidative stress and Rett syndrome

De Felice C. 1, Signorini C. 2, Leoncini S. 2, 3, Pecorelli A. 2, 3, Durand T. 4, Valacchi G. 5, 6, Ciccoli L. 2, Hayek J. 3

1 Unità Operativa Complessa di Terapia Intensiva Neonatale Policlinico Le Scotte Azienda Ospedaliera Universitaria Senese (AOUS), Siena, Italia;
2 Dipartimento di Medicina Molecolare e dello Sviluppo, Università di Siena, Siena, Italia;
3 Unità Operativa Complessa di Neuropsichiatria Infantile Policlinico Le Scotte, AOUS, Siena, Italia;
4 Institut des Biomolécules Max Mousseron (IBMM) - UMR 5247 CNRS – UM I – UM II Montpellier, France;
5 Dipartimento di Scienze della Vita e Biotecnologie, Università di Ferrara, Ferrara, Italia;
6 Department of Food and Nutrition, Kyung Hee University, Seoul, South Korea

The oxidative stress (OS) hypothesis is able to explain several features of Rett syndrome (RTT), a pervasive development disorder almost exclusively affecting females mainly caused by a mutation in the X-linked methyl-CpG binding protein 2 (MeCP2) gene. In particular, the generation of an OS imbalance is related to MeCP2 gene mutation type, as well as natural history, clinical heterogeneity of the disease, and is compatible with the potential reversibility of the disease observed in the RTT animal models. In addition, our findings indicate the importance of blood as a suitable biological fluid for detecting markers of central nervous system oxidative damage in RTT and underline the key role of interaction between organic chemists, OS biochemists, and clinicians in revealing potential new markers of the disease and identifying potential new targets and interventional strategies aimed at improving the quality of life of these patients, affected by a so far incurable disease. Further efforts in the near future are needed in order to dissect the “black box” of the molecular events likely linking the MeCP2 gene mutation to OS derangement and subsequent disease expression.

language: Italian


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