Posts Tagged ‘Fragile-X’
Neat looking study: Plasma cytokine profiles in Fragile X subjects: Is there a role for cytokines in the pathogenesis?
Posted January 29, 2010on:
I have yet to get my hands on a copy of Plasma cytokine profiles in Fragile X subjects: Is there a role for cytokines in the pathogenesis?, but plan on doing so relatively soon. Even still, the abstract looks pretty good:
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-1alpha, 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.
I love the MIND guys. Anyways, the quick glance gives me some ideas:
- The big one here would seem to be that we seem to have additional evidence that immune dysregulation has very specific ties to autism; a pattern not just of immune dysregulation, but indeed, the beginings of an immunological signature, one so precise that given nothing but blood samples, we could beat Vegas odds in selecting which child has Fragile-X, and which child has Fragile-X and autism. This is also more evidence that an abberant immunological response might be playing a causative role in autistic behavior genesis; just having Fragile-X isn’t enough for you to have this profile, you also have to have autism.
- Some of the players there we know about already; IL-6 was found in increased levels in the CNS by Vargas, and Li , and was found to be generated at higher levels in several studies including Ashwood, Enstrom , Jyonouchi, and Jyonouchi. It also has great deal of support for a place in seizure generation. MCP-1 was also found in Vargas, Eotaxin is also chemotaxic, though I haven’t read anything about it yet.
That’s the abstract view, the whole paper should get here soon.