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.


OBJECTIVE
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.
Ashwood
Paul
P
Department of Medical Microbiology and Immunology, University of California, School of Medicine, Davis, CA 95616, USA.
Nguyen
Danh V
DV
Hessl
David
D
Hagerman
Randi J
RJ
Tassone
Flora
F
D000223:Adaptation, Psychological / Q000502:physiology; D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000378:metabolism / Q000523:psychology; D015415:Biomarkers; D001798:Blood Proteins / Q000378:metabolism; D018925:Chemokines / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003071:Cognition / Q000502:physiology; D016207:Cytokines / Q000378:metabolism* / Q000502:physiology*; D004247:DNA / Q000235:genetics; D005600:Fragile X Syndrome / Q000378:metabolism* / Q000473:pathology / Q000523:psychology; D006801:Humans; D007361:Intelligence Tests; D008297:Male; D011569:Psychiatric Status Rating Scales; D055815:Young Adult
D015415:Biomarkers; D001798:Blood Proteins; D018925:Chemokines; D016207:Cytokines; D004247:DNA