http://www.cnr.it/ontology/cnr/individuo/prodotto/ID189485

Partial rescue of Rett syndrome by omega-3 polyunsaturated fatty acids (PUFAs) oil (Articolo in rivista)

Type

Articolo in rivista (Classe)
Prodotto della ricerca (Classe)

Label

Partial rescue of Rett syndrome by omega-3 polyunsaturated fatty acids (PUFAs) oil (Articolo in rivista) (literal)

Anno

2012-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

10.1007/s12263-012-0285-7 (literal)

Alternative label

De Felice C.; Signorini C.; Durand T.; Ciccoli L.; Leoncini S; D'Esposito M.; Filosa S.; Oger C.; Guy A.; Bultel-Ponce V; Galano JM; Pecorelli A.; De Felice L.; Valacchi G.; Hayek J. (2012)
Partial rescue of Rett syndrome by omega-3 polyunsaturated fatty acids (PUFAs) oil
in Genes & nutrition; Springer, New York (Stati Uniti d'America)
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

De Felice C.; Signorini C.; Durand T.; Ciccoli L.; Leoncini S; D'Esposito M.; Filosa S.; Oger C.; Guy A.; Bultel-Ponce V; Galano JM; Pecorelli A.; De Felice L.; Valacchi G.; Hayek J. (literal)

Pagina inizio

447 (literal)

Pagina fine

458 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

7 (literal)

Rivista

Genes & nutrition (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

3 (literal)

Note

ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

Univ Hosp Azienda Osped Univ Senese AOUS Siena, SM Le Scotte Gen Hosp, Neonatal Intens Care Unit, I-53100 Siena, Italy Univ Siena, Dept Pathophysiol Expt Med & Publ Hlth, I-53100 Siena, Italy UM II, UM 1, UMR CNRS 5247, IBMM, Montpellier, France Adriano Buzzati Traverso CNR, Inst Genet & Biophys, Naples, Italy IRCCS Neuromed, Pozzilli, Italy Univ Florence, Multimedia Content Design Master Course, Florence, Italy Univ Ferrara, Dept Evolutionary Biol, I-44100 Ferrara, Italy Kyung Hee Univ, Dept Food & Nutr, Seoul, South Korea AOUS, Univ Hosp, Child Neuropsychiat Unit, Siena, Italy (literal)

Titolo

Partial rescue of Rett syndrome by omega-3 polyunsaturated fatty acids (PUFAs) oil (literal)

Abstract

Evidence of enhanced oxidative stress (O.S.) and lipid peroxidation has been reported in patients with Rett syndrome (RTT), a relatively rare neurodevelopmental disorder progressing in 4-stages, and mainly caused by loss-of-function mutations in the methyl-CpG-binding protein 2. No effective therapy for preventing or arresting the neurologic regression in the disease in its various clinical presentations is available. Based on our prior evidence of enhanced O.S. and lipid peroxidation in RTT patients, herein we tested the possible therapeutic effects of omega-3 polyunsaturated fatty acids (omega-3 PUFAs), known antioxidants with multiple effects, on the clinical symptoms and O.S. biomarkers in the earliest stage of RTT. A total of 20 patients in stage I were randomized (n = 10 subjects per arm) to either oral supplementation with omega-3 PUFAs-containing fish oil (DHA: 72.9 +/- A 8.1 mg/kg b.w./day; EPA: 117.1 +/- A 13.1 mg/kg b.w./day; total omega-3 PUFAs: 246.0 +/- A 27.5 mg/kg b.w./day) for 6 months or no treatment. Primary outcomes were potential changes in clinical symptoms, with secondary outcomes including variations for five O.S. markers in plasma and/or erythrocytes (nonprotein bound iron, F-2-dihomo-isoprostanes, F-3-isoprostanes, F-4-neuroprostanes, and F-2-isoprostanes). A significant reduction in the clinical severity (in particular, motor-related signs, nonverbal communication deficits, and breathing abnormalities) together with a significant decrease in all the examined O.S. markers was observed in the omega-3 PUFAs supplemented patients, whereas no significant changes were evidenced in the untreated group. For the first time, these findings strongly suggest that a dietary intervention in this genetic disease at an early stage of its natural history can lead to a partial clinical and biochemical rescue. (literal)

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