Plasma cytokine profiles in Fragile X subjects: Is there a role for cytokines in the pathogenesis?

Background: Fragile X syndrome (FXS) is a single-gene disorder with a broad spectrum of involvement and a strong association with autism. Altered immune responses have been described in autism and there is potential that in children with FXS and autism, an abnormal immune response may play a role. Objectives: To delineate specific patterns of cytokine/chemokine profiles in individuals with FXS with and without autism and to compare them with typical developing controls. Methods: Age matched male subjects were recruited through the M.I.N.D. Institute and included: 19 typically developing controls, 64 subjects with FXS without autism and 40 subjects with FXS and autism. Autism diagnosis was confirmed with ADOS, ADI-R and DSM IV criteria. Plasma was isolated and cytokine and chemokine production was assessed by Luminex multiplex analysis. Results: Preliminary observations indicate significant differences in plasma protein levels of a number of cytokines, including IL-1 alpha, and the chemokines; RANTES and IP-10, between the FXS group and the typical developing controls (p < 0.01). In addition, significant differences were observed between the FXS group with autism and the FXS without autism for IL-6, eotaxin, MCP-1 (p < 0.04). Conclusions: In this study, the first of its kind, we report a significantly altered cytokine profile in FXS. The characterization of an immunological profile in FXS with and without autism may help to elucidate if an abnormal immune response may play a role and help to identify mechanisms important in the etiology of autism both with and without FXS. (C) 2010 Published by Elsevier Inc.