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.
| Original language | English |
|---|---|
| Pages (from-to) | 1399-1406 |
| Number of pages | 8 |
| Journal | Clinica Chimica Acta |
| Volume | 412 |
| Issue number | 15-16 |
| DOIs | |
| Publication status | Published - Jul 15 2011 |
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Keywords
- ω-3 polyunsaturated fatty acids
- Autism spectrum disorders
- CDKL5
- MeCP2
- Neuroprostanes
- Rett syndrome
ASJC Scopus subject areas
- Biochemistry
- Clinical Biochemistry
- Biochemistry, medical
- Medicine(all)
Cite this
F4-neuroprostanes mediate neurological severity in Rett syndrome. / Signorini, Cinzia; De Felice, Claudio; Leoncini, Silvia; Giardini, Anna; D'Esposito, Maurizio; Filosa, Stefania; Della Ragione, Floriana; Rossi, Marcello; Pecorelli, Alessandra; Valacchi, Giuseppe; Ciccoli, Lucia; Hayek, Joussef.
In: Clinica Chimica Acta, Vol. 412, No. 15-16, 15.07.2011, p. 1399-1406.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - F4-neuroprostanes mediate neurological severity in Rett syndrome
AU - Signorini, Cinzia
AU - De Felice, Claudio
AU - Leoncini, Silvia
AU - Giardini, Anna
AU - D'Esposito, Maurizio
AU - Filosa, Stefania
AU - Della Ragione, Floriana
AU - Rossi, Marcello
AU - Pecorelli, Alessandra
AU - Valacchi, Giuseppe
AU - Ciccoli, Lucia
AU - Hayek, Joussef
PY - 2011/7/15
Y1 - 2011/7/15
N2 - 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.
AB - 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.
KW - ω-3 polyunsaturated fatty acids
KW - Autism spectrum disorders
KW - CDKL5
KW - MeCP2
KW - Neuroprostanes
KW - Rett syndrome
UR - http://www.scopus.com/inward/record.url?scp=79956316620&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79956316620&partnerID=8YFLogxK
U2 - 10.1016/j.cca.2011.04.016
DO - 10.1016/j.cca.2011.04.016
M3 - Article
VL - 412
SP - 1399
EP - 1406
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
SN - 0009-8981
IS - 15-16
ER -