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Mediators of Inflammation
Volume 2013, Article ID 438653, 10 pages
http://dx.doi.org/10.1155/2013/438653
Research Article

A Plasma Proteomic Approach in Rett Syndrome: Classical versus Preserved Speech Variant

1Department of Medical Biotechnologies, University of Siena, Via A. Moro 2, 53100 Siena, Italy
2Child Neuropsychiatry Unit, University Hospital Azienda Ospedaliera Universitaria Senese (AOUS), Viale M. Bracci 16, 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 19 September 2013; Revised 16 October 2013; Accepted 17 October 2013

Academic Editor: Paul Ashwood

Copyright © 2013 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.

Supplementary Material

Additional Comparative Analysis.

In this work, to better characterize the RTT plasma protein pattern, we carried out a proteomic analysis based on 5 different analytical groups: (1) classical RTT versus PSV-RTT, (2) RTT versus controls, (3) RTT sisters Family 1 versus RTT sisters Family 2, (4) no. 1 classical RTT versus no. 3 classical RTT, and (5) no. 2 PSV-RTT versus no. 4 PSV-RTT (see Table 3 in the main text).

In addition, to better understand the meaning of plasma proteome variations in each examined RTT patients, we carried out another 4 comparative analyses versus healthy controls. Significant quantitative variations appeared after these comparisons: No.1 classical RTT versus controls comparison showed an underexpression of alpha-1-microglobulin (AMBP), fibrinogen beta chain (FIBB), immunoglobulin gamma-2 chain C region (IGHG2), serum transferrin (TRFE) and complement C3 (CO3); No. 2 classical RTT versus controls comparison showed an underexpression of FIBB, albumin (ALBU), TRFE and CO3 and an overexpression of clusterin (CLUS); No. 3 PSV-RTT versus controls showed underexpressions of hemoglobin subunit beta (HBB), IGHG2, TRFE, CO3 and an underexpression of transthyretin (TTHY); No. 4 PSV-RTT versus controls showed underexpression of IGHG2 and TRFE. Significant qualitative variations appeared after these comparisons as protein disappearances: No.1 classical RTT versus controls comparison showed a disappearance of immunoglobulin J chain (IGJ); No. 2 classical RTT versus controls comparison showed disappearances of HBB, alpha-1-antitrypsin (A1AT) and TTHY; No. 3 PSV-RTT versus controls showed disappearances of ALBU, IGJ, HBB and A1AT; No. 4 PSV-RTT versus controls showed disappearances of AMBP, CLUS, ALBU, IGJ, A1AT and CO3 (Table 4).

  1. Supplementary Material