A Plasma Proteomic Approach in Rett Syndrome: Classical versus Preserved Speech Variant
Rett syndrome (RTT) is a progressive neurodevelopmental disorder mainly caused by mutations in the gene encoding the methyl-CpG-binding protein 2 (MeCP2). Although over 200 mutations types have been identified so far, nine of which the most frequent ones. A wide phenotypical heterogeneity is a well-...
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Wiley
2013-01-01
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| Series: | Mediators of Inflammation |
| Online Access: | http://dx.doi.org/10.1155/2013/438653 |
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| author | Alessio Cortelazzo Roberto Guerranti Claudio De Felice Cinzia Signorini Silvia Leoncini Alessandra Pecorelli Claudia Landi Luca Bini Barbara Montomoli Claudia Sticozzi Lucia Ciccoli Giuseppe Valacchi Joussef Hayek |
| author_facet | Alessio Cortelazzo Roberto Guerranti Claudio De Felice Cinzia Signorini Silvia Leoncini Alessandra Pecorelli Claudia Landi Luca Bini Barbara Montomoli Claudia Sticozzi Lucia Ciccoli Giuseppe Valacchi Joussef Hayek |
| author_sort | Alessio Cortelazzo |
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| description | Rett syndrome (RTT) is a progressive neurodevelopmental disorder mainly caused by mutations in the gene encoding the methyl-CpG-binding protein 2 (MeCP2). Although over 200 mutations types have been identified so far, nine of which the most frequent ones. A wide phenotypical heterogeneity is a well-known feature of the disease, with different clinical presentations, including the classical form and the preserved speech variant (PSV). Aim of the study was to unveil possible relationships between plasma proteome and phenotypic expression in two cases of familial RTT represented by two pairs of sisters, harbor the same MECP2 gene mutation while being dramatically discrepant in phenotype, that is, classical RTT versus PSV. Plasma proteome was analysed by 2-DE/MALDI-TOF MS. A significant overexpression of six proteins in the classical sisters was detected as compared to the PSV siblings. A total of five out of six (i.e., 83.3%) of the overexpressed proteins were well-known acute phase response (APR) proteins, including alpha-1-microglobulin, haptoglobin, fibrinogen beta chain, alpha-1-antitrypsin, and complement C3. Therefore, the examined RTT siblings pairs proved to be an important benchmark model to test the molecular basis of phenotypical expression variability and to identify potential therapeutic targets of the disease. |
| format | Article |
| id | doaj-art-946abc803de840dc8bdc7dad8c35b7a9 |
| institution | Kabale University |
| issn | 0962-9351 1466-1861 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Mediators of Inflammation |
| spelling | doaj-art-946abc803de840dc8bdc7dad8c35b7a92025-02-03T06:00:01ZengWileyMediators of Inflammation0962-93511466-18612013-01-01201310.1155/2013/438653438653A Plasma Proteomic Approach in Rett Syndrome: Classical versus Preserved Speech VariantAlessio Cortelazzo0Roberto Guerranti1Claudio De Felice2Cinzia Signorini3Silvia Leoncini4Alessandra Pecorelli5Claudia Landi6Luca Bini7Barbara Montomoli8Claudia Sticozzi9Lucia Ciccoli10Giuseppe Valacchi11Joussef Hayek12Department of Medical Biotechnologies, University of Siena, Via A. Moro 2, 53100 Siena, ItalyDepartment of Medical Biotechnologies, University of Siena, Via A. Moro 2, 53100 Siena, ItalyNeonatal Intensive Care Unit, University Hospital AOUS, Viale M. Bracci 16, 53100 Siena, ItalyDepartment of Molecular and Developmental Medicine, University of Siena, Via A. Moro 6, 53100 Siena, ItalyChild Neuropsychiatry Unit, University Hospital Azienda Ospedaliera Universitaria Senese (AOUS), Viale M. Bracci 16, 53100 Siena, ItalyChild Neuropsychiatry Unit, University Hospital Azienda Ospedaliera Universitaria Senese (AOUS), Viale M. Bracci 16, 53100 Siena, ItalyDepartment of Life Science, University of Siena, Via A. Moro 2, 53100 Siena, ItalyDepartment of Life Science, University of Siena, Via A. Moro 2, 53100 Siena, ItalyChild Neuropsychiatry Unit, University Hospital Azienda Ospedaliera Universitaria Senese (AOUS), Viale M. Bracci 16, 53100 Siena, ItalyDepartment of Life Sciences and Biotechnology, University of Ferrara, Via Borsari 46, 44100 Ferrara, ItalyDepartment of Molecular and Developmental Medicine, University of Siena, Via A. Moro 6, 53100 Siena, ItalyDepartment of Life Sciences and Biotechnology, University of Ferrara, Via Borsari 46, 44100 Ferrara, ItalyChild Neuropsychiatry Unit, University Hospital Azienda Ospedaliera Universitaria Senese (AOUS), Viale M. Bracci 16, 53100 Siena, ItalyRett syndrome (RTT) is a progressive neurodevelopmental disorder mainly caused by mutations in the gene encoding the methyl-CpG-binding protein 2 (MeCP2). Although over 200 mutations types have been identified so far, nine of which the most frequent ones. A wide phenotypical heterogeneity is a well-known feature of the disease, with different clinical presentations, including the classical form and the preserved speech variant (PSV). Aim of the study was to unveil possible relationships between plasma proteome and phenotypic expression in two cases of familial RTT represented by two pairs of sisters, harbor the same MECP2 gene mutation while being dramatically discrepant in phenotype, that is, classical RTT versus PSV. Plasma proteome was analysed by 2-DE/MALDI-TOF MS. A significant overexpression of six proteins in the classical sisters was detected as compared to the PSV siblings. A total of five out of six (i.e., 83.3%) of the overexpressed proteins were well-known acute phase response (APR) proteins, including alpha-1-microglobulin, haptoglobin, fibrinogen beta chain, alpha-1-antitrypsin, and complement C3. Therefore, the examined RTT siblings pairs proved to be an important benchmark model to test the molecular basis of phenotypical expression variability and to identify potential therapeutic targets of the disease.http://dx.doi.org/10.1155/2013/438653 |
| spellingShingle | Alessio Cortelazzo Roberto Guerranti Claudio De Felice Cinzia Signorini Silvia Leoncini Alessandra Pecorelli Claudia Landi Luca Bini Barbara Montomoli Claudia Sticozzi Lucia Ciccoli Giuseppe Valacchi Joussef Hayek A Plasma Proteomic Approach in Rett Syndrome: Classical versus Preserved Speech Variant Mediators of Inflammation |
| title | A Plasma Proteomic Approach in Rett Syndrome: Classical versus Preserved Speech Variant |
| title_full | A Plasma Proteomic Approach in Rett Syndrome: Classical versus Preserved Speech Variant |
| title_fullStr | A Plasma Proteomic Approach in Rett Syndrome: Classical versus Preserved Speech Variant |
| title_full_unstemmed | A Plasma Proteomic Approach in Rett Syndrome: Classical versus Preserved Speech Variant |
| title_short | A Plasma Proteomic Approach in Rett Syndrome: Classical versus Preserved Speech Variant |
| title_sort | plasma proteomic approach in rett syndrome classical versus preserved speech variant |
| url | http://dx.doi.org/10.1155/2013/438653 |
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