Subclinical Inflammatory Status in Rett Syndrome
Joint Authors
Guerranti, Roberto
Valacchi, Giuseppe
Hayek, Joussef
Pecorelli, Alessandra
Leoncini, Silvia
Landi, Claudia
Cortelazzo, Alessio
Zollo, Gloria
Bini, Luca
Signorini, Cinzia
Ciccoli, Lucia
De Felice, Claudio
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-13, 13 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-01-06
Country of Publication
Egypt
No. of Pages
13
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Cortelazzo, Alessio& De Felice, Claudio& Guerranti, Roberto& Signorini, Cinzia& Leoncini, Silvia& Pecorelli, Alessandra…[et al.]. 2014. Subclinical Inflammatory Status in Rett Syndrome. Mediators of Inflammation،Vol. 2014, no. 2014, pp.1-13.
https://search.emarefa.net/detail/BIM-1043591
Modern Language Association (MLA)
Cortelazzo, Alessio…[et al.]. Subclinical Inflammatory Status in Rett Syndrome. Mediators of Inflammation No. 2014 (2014), pp.1-13.
https://search.emarefa.net/detail/BIM-1043591
American Medical Association (AMA)
Cortelazzo, Alessio& De Felice, Claudio& Guerranti, Roberto& Signorini, Cinzia& Leoncini, Silvia& Pecorelli, Alessandra…[et al.]. Subclinical Inflammatory Status in Rett Syndrome. Mediators of Inflammation. 2014. Vol. 2014, no. 2014, pp.1-13.
https://search.emarefa.net/detail/BIM-1043591
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1043591