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EVALUATION OF PLASMA SUBSTANCE P AND BETA-ENDORPHIN LEVELS IN CHILDREN WITH PRADER-WILLI SYNDROME
M G Butler1, T A Nelson1, D J Driscoll2
1Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, USA.
The Journal of Rare Disorders
|August 30, 2016
Summary
Children with Prader-Willi syndrome (PWS) have higher levels of neuropeptides Substance P (SP) and beta-endorphin (BE). These elevated levels may explain PWS symptoms like hyperphagia and altered pain perception.
Area of Science:
- Neuroendocrinology
- Genetics
- Pediatrics
Background:
- Prader-Willi syndrome (PWS) is a genetic disorder linked to chromosome 15q11-q13 deletions or maternal disomy.
- PWS symptoms include short stature, hypogonadism, cognitive/behavioral issues, analgesia, and hyperphagia, leading to obesity.
- Neuropeptides Substance P (SP) and beta-endorphin (BE) influence pain, emotion, and gastric motility.
Purpose of the Study:
- Investigate mechanisms of PWS symptoms related to pain, emotion, and gastric motility.
- Compare plasma levels of SP and BE in children with PWS versus unaffected siblings.
Main Methods:
- Collected plasma samples from 23 children with PWS and 18 unaffected siblings (ages 5-11).
- Assessed SP and BE levels using Multiplex sandwich immunoassays on a Luminex platform.
- Analyzed data using linear regression, adjusting for age, sex, and BMI.
Main Results:
- Children with PWS showed significantly higher mean plasma SP (57 ± 23 pg/ml) and BE (592 ± 200 pg/ml) levels compared to unaffected siblings (SP: 35 ± 20 pg/ml; BE: 402 ± 162 pg/ml).
- These findings suggest a novel neuroendocrine pathophysiology in PWS.
Conclusions:
- Elevated BE and SP plasma levels in PWS may contribute to hyperphagia, abnormal pain sensation, and adrenal insufficiency.
- Increased SP may be modulated by BE's actions, potentially indicating a loss of feedback inhibition.
- Further research is needed to confirm the biochemical basis and impact of these neuropeptide disturbances on PWS symptoms.
