A Plasma Proteomic Approach in Rett Syndrome : Classical versus Preserved Speech Variant
Joint Authors
Guerranti, Roberto
De Felice, Claudio
Hayek, Joussef
Pecorelli, Alessandra
Leoncini, Silvia
Sticozzi, Claudia
Landi, Claudia
Cortelazzo, Alessio
Bini, Luca
Signorini, Cinzia
Ciccoli, Lucia
Montomoli, Barbara
Giuseppe, Valacchi
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-12-23
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Cortelazzo, Alessio& Guerranti, Roberto& De Felice, Claudio& Signorini, Cinzia& Leoncini, Silvia& Pecorelli, Alessandra…[et al.]. 2013. A Plasma Proteomic Approach in Rett Syndrome : Classical versus Preserved Speech Variant. Mediators of Inflammation،Vol. 2013, no. 2013, pp.1-10.
https://search.emarefa.net/detail/BIM-472368
Modern Language Association (MLA)
Cortelazzo, Alessio…[et al.]. A Plasma Proteomic Approach in Rett Syndrome : Classical versus Preserved Speech Variant. Mediators of Inflammation No. 2013 (2013), pp.1-10.
https://search.emarefa.net/detail/BIM-472368
American Medical Association (AMA)
Cortelazzo, Alessio& Guerranti, Roberto& De Felice, Claudio& Signorini, Cinzia& Leoncini, Silvia& Pecorelli, Alessandra…[et al.]. A Plasma Proteomic Approach in Rett Syndrome : Classical versus Preserved Speech Variant. Mediators of Inflammation. 2013. Vol. 2013, no. 2013, pp.1-10.
https://search.emarefa.net/detail/BIM-472368
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-472368