Background: Rett syndrome (RTT) is a pervasive development disorder, mainly caused by mutations in the methyl-CpG binding protein 2 (MeCP2) gene. No reliable biochemical markers of the disease are available. Here we assess F4-neuroprostanes (F4-NeuroPs), lipid peroxidation products of the docosahexaenoic acid, as a novel disease marker in RTT and correlate it with clinical presentation, MeCP2 mutation type, and disease progression. In addition, we investigate on the impact of ω-3 polyunsaturated fatty acids (ω-3 PUFAs) supplementation on F4-NeuroPs levels. Methods: A case-control study design was used. A cohort of RTT patients (n=144) exhibiting different clinical presentations, disease stages, and MeCP2 gene mutations were evaluated. F4-NeuroPs were measured in free form using a GC/NICI-MS/MS technique. Plasma F4-NeuroPs levels in patients were compared to healthy controls and related to RTT forms, disease progression, and response to ω-3 PUFAs supplementation. Results: Plasma F4-NeuroPs levels were i) higher in RTT than in controls; ii) increased with the severity of neurological symptoms; iii) significantly elevated during the typical disease progression; iv) higher in MeCP2-nonsense as compared to missense mutation carriers; v) higher in typical RTT as compared to RTT variants; and vi) decreased in response to 12months ω-3 PUFAs oral supplementation. Conclusions: Quantification of plasma F4-NeuroPs provides a novel RTT marker, related to neurological symptoms severity, mutation type and clinical presentation. © 2011 Elsevier B.V.

Signorini, C., DE FELICE, C., Leoncini, S., Giardini, A., D'Esposito, M., Filosa, S., et al. (2011). F(4)-neuroprostanes mediate neurological severity in Rett syndrome. CLINICA CHIMICA ACTA, 412(15-16), 1399-1406 [10.1016/j.cca.2011.04.016].

F(4)-neuroprostanes mediate neurological severity in Rett syndrome

SIGNORINI, C.;LEONCINI, S.;GIARDINI, A.;ROSSI, M.;CICCOLI, L.;
2011-01-01

Abstract

Background: Rett syndrome (RTT) is a pervasive development disorder, mainly caused by mutations in the methyl-CpG binding protein 2 (MeCP2) gene. No reliable biochemical markers of the disease are available. Here we assess F4-neuroprostanes (F4-NeuroPs), lipid peroxidation products of the docosahexaenoic acid, as a novel disease marker in RTT and correlate it with clinical presentation, MeCP2 mutation type, and disease progression. In addition, we investigate on the impact of ω-3 polyunsaturated fatty acids (ω-3 PUFAs) supplementation on F4-NeuroPs levels. Methods: A case-control study design was used. A cohort of RTT patients (n=144) exhibiting different clinical presentations, disease stages, and MeCP2 gene mutations were evaluated. F4-NeuroPs were measured in free form using a GC/NICI-MS/MS technique. Plasma F4-NeuroPs levels in patients were compared to healthy controls and related to RTT forms, disease progression, and response to ω-3 PUFAs supplementation. Results: Plasma F4-NeuroPs levels were i) higher in RTT than in controls; ii) increased with the severity of neurological symptoms; iii) significantly elevated during the typical disease progression; iv) higher in MeCP2-nonsense as compared to missense mutation carriers; v) higher in typical RTT as compared to RTT variants; and vi) decreased in response to 12months ω-3 PUFAs oral supplementation. Conclusions: Quantification of plasma F4-NeuroPs provides a novel RTT marker, related to neurological symptoms severity, mutation type and clinical presentation. © 2011 Elsevier B.V.
Signorini, C., DE FELICE, C., Leoncini, S., Giardini, A., D'Esposito, M., Filosa, S., et al. (2011). F(4)-neuroprostanes mediate neurological severity in Rett syndrome. CLINICA CHIMICA ACTA, 412(15-16), 1399-1406 [10.1016/j.cca.2011.04.016].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/20242
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