Subclinical Inflammatory Status in Rett Syndrome

• Main Authors: Alessio Cortelazzo (Author), Claudio De Felice (Author), Roberto Guerranti (Author), Cinzia Signorini (Author), Silvia Leoncini (Author), Alessandra Pecorelli (Author), Gloria Zollo (Author), Claudia Landi (Author), Giuseppe Valacchi (Author), Lucia Ciccoli (Author), Luca Bini (Author), Joussef Hayek (Author)
• Format: Book
• Published: Hindawi Limited, 2014-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

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.

Item Description

0962-9351
1466-1861
10.1155/2014/480980