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Published on: August 7, 2017
Increased plasma chemokine levels in children with Prader-Willi syndrome
Merlin G Butler1, Waheeda Hossain, Carlos Sulsona
1Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, Kansas; Department of Pediatrics, University of Kansas Medical Center, Kansas City, Kansas.
Insights
Children with Prader-Willi syndrome (PWS) show elevated levels of specific bioinflammatory chemokines, suggesting immune system disturbances unrelated to obesity. These findings may offer insights into neurodevelopmental aspects of PWS.
Area of Science:
- Immunology
- Neurodevelopment
- Genetics
Background:
- Prader-Willi syndrome (PWS) is linked to genetic deletions in the 15q11-q13 region and is associated with autism features and increased inflammatory markers.
- Cytokines, involved in inflammation and cell processes, play a role in neurodevelopment and may be altered in PWS, similar to observations in autism.
Purpose of the Study:
- To investigate plasma cytokine levels in children with PWS compared to unaffected siblings.
- To determine if immune system disturbances, specifically elevated chemokines, are present in PWS and if they correlate with neurodevelopmental or behavioral features.
Main Methods:
- Analyzed 41 plasma cytokines in children with PWS (ages 5-11) and their unaffected siblings using multiplex immunoassays (Luminex platform).
- Utilized ANOVA and MANOVA statistical analyses to assess the effects of diagnosis, gender, BMI, and age on cytokine levels.
- Focused on 24 cytokines meeting laboratory inclusion criteria for analysis.
Main Results:
- No significant effects of age, gender, or BMI were found on cytokine levels.
- A significant main effect of diagnosis (PWS vs. controls) was observed across 24 analyzable cytokines (P < 0.03).
- Four specific chemokines (MCP1, MDC, Eotaxin, RANTES) were significantly higher in children with PWS, indicating a bioinflammatory response independent of obesity status.
Conclusions:
- Children with PWS exhibit elevated levels of specific bioinflammatory chemokines, suggesting an underlying disturbed immune response.
- These immune alterations are not correlated with BMI or obesity status in the PWS cohort.
- Further research is needed to explore the contribution of these immunological disturbances to the neurodevelopmental and behavioral characteristics of PWS.
Abstract:
Prader-Willi syndrome (PWS) is caused by loss of paternally expressed genes from the 15q11-q13 region and reportedly rearranged as a cause of autism. Additionally, increased inflammatory markers and features of autism are reported in PWS. Cytokines encoded by genes involved with inflammation, cell proliferation, migration, and adhesion play a role in neurodevelopment and could be disturbed in PWS as abnormal plasma cytokine levels are reported in autism. We analyzed 41 plasma cytokines in a cohort of well-characterized children with PWS between 5 and 11 years of age and unaffected unrelated siblings using multiplex sandwich immunoassays with the Luminex magnetic-bead based platform. Data were analyzed using ANOVA testing for effects of diagnosis, gender, body mass index (BMI) and age on the 24 cytokines meeting laboratory criteria for inclusion. No significant effects were observed for age, gender or BMI. The log-transformed levels of the 24 analyzable cytokines were examined simultaneously using MANOVA adjusting for age and gender and a main effect of diagnosis was found (P-value <0.03). Four of 24 plasma cytokine levels (MCP1, MDC, Eotaxin, RANTES) were significantly higher in children with PWS compared with controls and classified as bioinflammatory chemokines supporting a disturbed immune response unrelated to obesity status. BMI was not statistically different in the two subject groups (PWS or unaffected unrelated siblings) and chemokine levels were not correlated with percentage of total body fat. Additional studies are required to identify whether possible early immunological disturbances and chemokine inflammatory processes found in PWS may contribute to neurodevelopment and behavioral features.
