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EnglishInflammation 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.
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| Data di pubblicazione: | 2014 | |
| Titolo: | Subclinical Inflammatory Status in Rett Syndrome | |
| Autori: | 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 | |
| Rivista: | MEDIATORS OF INFLAMMATION | |
| 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. | |
| Digital Object Identifier (DOI): | 10.1155/2014/480980 | |
| Handle: | http://hdl.handle.net/11392/1913425 | |
| Appare nelle tipologie: | 03.1 Articolo su rivista |
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