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Mediators of Inflammation
Volume 2014, Article ID 480980, 13 pages
http://dx.doi.org/10.1155/2014/480980
Research Article

Subclinical Inflammatory Status in Rett Syndrome

1Child Neuropsychiatry Unit, University Hospital Azienda Ospedaliera Universitaria Senese (AOUS), Viale M. Bracci 16, 53100 Siena, Italy
2Department of Medical Biotechnologies, University of Siena, Via A. Moro 2, 53100 Siena, Italy
3Neonatal Intensive Care Unit, University Hospital AOUS, Viale M. Bracci 16, 53100 Siena, Italy
4Department of Molecular and Developmental Medicine, University of Siena, Via A. Moro 6, 53100 Siena, Italy
5Department of Life Science, University of Siena, Via A. Moro 2, 53100 Siena, Italy
6Department of Life Sciences and Biotechnology, University of Ferrara, Via Borsari 46, 44100 Ferrara, Italy
7Department of Food and Nutrition, Kyung Hee University, 1 Hoegi-dong, Dongdaemun-gu, Seoul 130-701, Republic of Korea

Received 8 October 2013; Revised 4 December 2013; Accepted 6 December 2013; Published 6 January 2014

Academic Editor: Paul Ashwood

Copyright © 2014 Alessio Cortelazzo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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, ) were detectable in RTT, whereas C-reactive protein levels were unchanged ( ). The 2-DE analysis identified significant changes for a total of 17 proteins, the majority of which were categorized as APR proteins, either positive ( spots) or negative ( spots), and to a lesser extent as proteins involved in the immune system ( spots), with some proteins having overlapping functions on metabolism ( 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.