The role of oxidative stress in Rett syndrome: an overview

Felice, Claudio De; Signorini, Cinzia; Leoncini, Silvia; Pecorelli, Alessandra; Valacchi, Giuseppe; Ciccoli, Lucia; Hayek, Joussef

doi:10.1111/j.1749-6632.2012.06611.x

Cited by 85 publications

(75 citation statements)

References 135 publications

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“…RTT is caused in up to 95% of cases by mutations in the X-linked methylCpG binding protein 2 (MeCP2) genes (De Felice et al, 2012). Although over 200 different MeCp2 mutations have been reported to cause RTT, nine most frequent ones (hotspot mutations) are known to comprise more than three quarters of all the reported pathogenic mutations.…”

Section: Dihomo-isoprostanesmentioning

confidence: 99%

Non enzymatic metabolites of polyunsaturated fatty acids: friend or foe

Bultel-Poncé¹,

Guy²,

Oger³

et al. 2015

OCL

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-Under condition of oxidative stress, free radical mediated peroxidation of polyunsaturated fatty acids generates in vivo, cyclic metabolites like the isoprostanes, neuroprostanes, dihomo-isoprostanes, isofuranes among a large number of key products which participate in many pathophysiological processes. These metabolites display a wide range of biological actions, and some of them are now the most reliable indicators of oxidative stress in humans. In this review, we will discuss several key points of our understanding of those cyclic polyunsaturated fatty acids derivatives, going from multi-step syntheses, analytical chemistry and biological activities.Keywords: biomarkers / polyunsaturated fatty acid / radical peroxidation / isoprostanes / neuroprostanes / isofurans / total synthesis Résumé -La peroxydation radicalaire des acides gras polyinsaturés, constituants majeurs des membranes cellulaires, conduit à de nombreux métabolites, comme les isoprostanes, les neuroprostanes, les dihomo-isoprostanes, les isofuranes. Certaines isoprostanes sont à présent des marqueurs du stress oxydant cellulaire les plus significatifs utilisés en clinique. Ces lipides oxygénés possèdent également un large spectre d'activités biologiques. Cette revue fera le point sur notre dernière stratégie de synthèse organique multi-étapes pour obtenir ces molécules pures et sur des résultats récents issus de collaborations avec des collègues biologistes et cliniciens.

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Section: Dihomo-isoprostanesmentioning

confidence: 99%

Non enzymatic metabolites of polyunsaturated fatty acids: friend or foe

Bultel-Poncé¹,

Guy²,

Oger³

et al. 2015

OCL

Self Cite

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“…Our group and other laboratories have reported enhanced OS markers levels in plasma and erythrocytes from patients with RTT, thus suggesting the presence of a systemic OS in the disease. However, to date, it is unclear not only why, but also when, and where this OS derangement may occur [19–26]. …”

Section: Introductionmentioning

confidence: 99%

Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome

Signorini

Leoncini

Felice

et al. 2014

Oxidative Medicine and Cellular Longevity

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Evidence of oxidative stress has been reported in the blood of patients with Rett syndrome (RTT), a neurodevelopmental disorder mainly caused by mutations in the gene encoding the Methyl-CpG-binding protein 2. Little is known regarding the redox status in RTT cellular systems and its relationship with the morphological phenotype. In RTT patients (n = 16) we investigated four different oxidative stress markers, F2-Isoprostanes (F2-IsoPs), F4-Neuroprostanes (F4-NeuroPs), nonprotein bound iron (NPBI), and (4-HNE PAs), and glutathione in one of the most accessible cells, that is, skin fibroblasts, and searched for possible changes in cellular/intracellular structure and qualitative modifications of synthesized collagen. Significantly increased F4-NeuroPs (12-folds), F2-IsoPs (7.5-folds) NPBI (2.3-folds), 4-HNE PAs (1.48-folds), and GSSG (1.44-folds) were detected, with significantly decreased GSH (−43.6%) and GSH/GSSG ratio (−3.05 folds). A marked dilation of the rough endoplasmic reticulum cisternae, associated with several cytoplasmic multilamellar bodies, was detectable in RTT fibroblasts. Colocalization of collagen I and collagen III, as well as the percentage of type I collagen as derived by semiquantitative immunofluorescence staining analyses, appears to be significantly reduced in RTT cells. Our findings indicate the presence of a redox imbalance and previously unrecognized morphological skin fibroblast abnormalities in RTT patients.

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“…Loss of tRNA methylation could be the main defect causing these disorders as the vast majority of NSun2 targets are tRNAs [4][5][6]. Interestingly, increased tRNA cleavage has been implicated in neurodegenerative and neurodevelopmental disorders [63,64] that are commonly associated with oxidative stress [65,66].…”

Section: Rna Methylation and Neuronal Functionmentioning

confidence: 99%

Epitranscriptome and FMRP Regulated mRNA Translation

2017

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An important regulatory mechanism affecting mRNA translation involves various covalent modifications of RNA, which establish distinct epitranscriptomic signatures that actively influence various physiological processes. Dendritic translation in mammalian neurons is a potent target for RNA modification-based regulation. In this mini-review, we focus on the effect of potential RNA modifications on the spatiotemporal regulation of the dendritic translation of mRNAs, which are targeted by two important neuronal translational co-regulators, namely TDP-43 and Fragile X Mental Retardation Protein (FMRP).

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The role of oxidative stress in Rett syndrome: an overview

Cited by 85 publications

References 135 publications

Non enzymatic metabolites of polyunsaturated fatty acids: friend or foe

Non enzymatic metabolites of polyunsaturated fatty acids: friend or foe

Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome

Epitranscriptome and FMRP Regulated mRNA Translation

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