Rett syndrome (RTT) is a devastating genetic neurodevelopmental disorder, previously classified among the autism spectrum disorders. It is caused by sporadic mutations in the X-linked gene encoding the methyl-CpG binding protein 2 (MeCP2) and affects almost exclusively females. However, the mechanisms leading from gene mutations to phenotypical expression remain incompletely clarified and a definitive cure is still lacking. Oxidative events accompanying the RTT can modify the anti-inflammatory properties of the high density lipoproteins rendering them pro-inflammatory. Oxidative stress (OS) is known to be related to decreased expression of OS inhibitors as well as over-expression of positive acute phase response proteins. Prior investigations suggest that ω-3 polyunsaturated fatty acids (ω-3 PUFAs), natural multifunctional antioxidants, exert a beneficial effect in patients affected by RTT, both in term of symptoms severity and redox imbalance. In the present study we examined plasma proteome changes in RTT subjects, with a particular focus on the proteins involved in the inflammatory cascade. Applying routine clinical chemistry and proteomics methods, we were able to document a subclinical inflammatory status in RTT patients, which was reversed by ω-3 PUFAs supplementation. Our findings provide new insight on the role of inflammation in neurodevelopmental disorders and indicate that ω-3 PUFAs-containing fish oil is able to modulate the expression of plasma proteins in RTT.

Acidi grassi polinsaturi ω-3 e stato infiammatorio subclinico nella sindrome di Rett: Un approccio proteomico

A. Pecorelli;G. Valacchi;
2014

Abstract

Rett syndrome (RTT) is a devastating genetic neurodevelopmental disorder, previously classified among the autism spectrum disorders. It is caused by sporadic mutations in the X-linked gene encoding the methyl-CpG binding protein 2 (MeCP2) and affects almost exclusively females. However, the mechanisms leading from gene mutations to phenotypical expression remain incompletely clarified and a definitive cure is still lacking. Oxidative events accompanying the RTT can modify the anti-inflammatory properties of the high density lipoproteins rendering them pro-inflammatory. Oxidative stress (OS) is known to be related to decreased expression of OS inhibitors as well as over-expression of positive acute phase response proteins. Prior investigations suggest that ω-3 polyunsaturated fatty acids (ω-3 PUFAs), natural multifunctional antioxidants, exert a beneficial effect in patients affected by RTT, both in term of symptoms severity and redox imbalance. In the present study we examined plasma proteome changes in RTT subjects, with a particular focus on the proteins involved in the inflammatory cascade. Applying routine clinical chemistry and proteomics methods, we were able to document a subclinical inflammatory status in RTT patients, which was reversed by ω-3 PUFAs supplementation. Our findings provide new insight on the role of inflammation in neurodevelopmental disorders and indicate that ω-3 PUFAs-containing fish oil is able to modulate the expression of plasma proteins in RTT.
Cortelazzo, A.; De Felice, C.; Signorini, C.; Guerranti, R.; Leoncini, S.; Pecorelli, A.; Durand, T.; Galano, J. -M.; Oger, C.; Zollo, G.; Montomoli, B.; Landi, C.; Bini, L.; Valacchi, G.; Ciccoli, L; Hayek, J
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/2501134
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