Subclinical Inflammatory Status in Rett Syndrome
Inflammation has been advocated as a possible common central mechanism for developmental cognitive impairment. Rett syndrome (RTT) is a devastating neurodevelopmental disorder, mainly caused by de novo loss-of-function mutations in the gene encoding MeCP2. Here, we investigated plasma acute phase re...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Mediators of Inflammation |
| Online Access: | http://dx.doi.org/10.1155/2014/480980 |
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| author | Alessio Cortelazzo Claudio De Felice Roberto Guerranti Cinzia Signorini Silvia Leoncini Alessandra Pecorelli Gloria Zollo Claudia Landi Giuseppe Valacchi Lucia Ciccoli Luca Bini Joussef Hayek |
| author_facet | Alessio Cortelazzo Claudio De Felice Roberto Guerranti Cinzia Signorini Silvia Leoncini Alessandra Pecorelli Gloria Zollo Claudia Landi Giuseppe Valacchi Lucia Ciccoli Luca Bini Joussef Hayek |
| author_sort | Alessio Cortelazzo |
| collection | DOAJ |
| description | Inflammation has been advocated as a possible common central mechanism for developmental cognitive impairment. Rett syndrome (RTT) is a devastating neurodevelopmental disorder, mainly caused by de novo loss-of-function mutations in the gene encoding MeCP2. Here, we investigated plasma acute phase response (APR) in stage II (i.e., “pseudo-autistic”) RTT patients by routine haematology/clinical chemistry and proteomic 2-DE/MALDI-TOF analyses as a function of four major MECP2 gene mutation types (R306C, T158M, R168X, and large deletions). Elevated erythrocyte sedimentation rate values (median 33.0 mm/h versus 8.0 mm/h, P<0.0001) were detectable in RTT, whereas C-reactive protein levels were unchanged (P=0.63). The 2-DE analysis identified significant changes for a total of 17 proteins, the majority of which were categorized as APR proteins, either positive (n=6 spots) or negative (n=9 spots), and to a lesser extent as proteins involved in the immune system (n=2 spots), with some proteins having overlapping functions on metabolism (n=7 spots). The number of protein changes was proportional to the severity of the mutation. Our findings reveal for the first time the presence of a subclinical chronic inflammatory status related to the “pseudo-autistic” phase of RTT, which is related to the severity carried by the MECP2 gene mutation. |
| format | Article |
| id | doaj-art-0c0d4dfcf23c4057aa94668d0f00d6eb |
| institution | Kabale University |
| issn | 0962-9351 1466-1861 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Mediators of Inflammation |
| spelling | doaj-art-0c0d4dfcf23c4057aa94668d0f00d6eb2025-02-03T01:12:30ZengWileyMediators of Inflammation0962-93511466-18612014-01-01201410.1155/2014/480980480980Subclinical Inflammatory Status in Rett SyndromeAlessio Cortelazzo0Claudio De Felice1Roberto Guerranti2Cinzia Signorini3Silvia Leoncini4Alessandra Pecorelli5Gloria Zollo6Claudia Landi7Giuseppe Valacchi8Lucia Ciccoli9Luca Bini10Joussef Hayek11Child Neuropsychiatry Unit, University Hospital Azienda Ospedaliera Universitaria Senese (AOUS), Viale M. Bracci 16, 53100 Siena, ItalyNeonatal Intensive Care Unit, University Hospital AOUS, Viale M. Bracci 16, 53100 Siena, ItalyDepartment of Medical Biotechnologies, University of Siena, Via A. Moro 2, 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, 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 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 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, ItalyInflammation has been advocated as a possible common central mechanism for developmental cognitive impairment. Rett syndrome (RTT) is a devastating neurodevelopmental disorder, mainly caused by de novo loss-of-function mutations in the gene encoding MeCP2. Here, we investigated plasma acute phase response (APR) in stage II (i.e., “pseudo-autistic”) RTT patients by routine haematology/clinical chemistry and proteomic 2-DE/MALDI-TOF analyses as a function of four major MECP2 gene mutation types (R306C, T158M, R168X, and large deletions). Elevated erythrocyte sedimentation rate values (median 33.0 mm/h versus 8.0 mm/h, P<0.0001) were detectable in RTT, whereas C-reactive protein levels were unchanged (P=0.63). The 2-DE analysis identified significant changes for a total of 17 proteins, the majority of which were categorized as APR proteins, either positive (n=6 spots) or negative (n=9 spots), and to a lesser extent as proteins involved in the immune system (n=2 spots), with some proteins having overlapping functions on metabolism (n=7 spots). The number of protein changes was proportional to the severity of the mutation. Our findings reveal for the first time the presence of a subclinical chronic inflammatory status related to the “pseudo-autistic” phase of RTT, which is related to the severity carried by the MECP2 gene mutation.http://dx.doi.org/10.1155/2014/480980 |
| spellingShingle | Alessio Cortelazzo Claudio De Felice Roberto Guerranti Cinzia Signorini Silvia Leoncini Alessandra Pecorelli Gloria Zollo Claudia Landi Giuseppe Valacchi Lucia Ciccoli Luca Bini Joussef Hayek Subclinical Inflammatory Status in Rett Syndrome Mediators of Inflammation |
| title | Subclinical Inflammatory Status in Rett Syndrome |
| title_full | Subclinical Inflammatory Status in Rett Syndrome |
| title_fullStr | Subclinical Inflammatory Status in Rett Syndrome |
| title_full_unstemmed | Subclinical Inflammatory Status in Rett Syndrome |
| title_short | Subclinical Inflammatory Status in Rett Syndrome |
| title_sort | subclinical inflammatory status in rett syndrome |
| url | http://dx.doi.org/10.1155/2014/480980 |
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