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The genetic background and vitamin D supplementation can affect irisin levels in Prader-Willi syndrome

M F Faienza1, G Brunetti2, G Grugni3

  • 1Department of Biomedical Sciences and Human Oncology, Section of Pediatrics, University of Bari 'A. Moro', Bari, Italy.

Journal of Endocrinological Investigation
|March 3, 2021
PubMed

Insights

Irisin levels in Prader-Willi syndrome (PWS) patients are not different from controls, but are lower in those with the DEL15 genetic background. Vitamin D supplementation may also influence irisin levels in PWS.

Area of Science:

  • Endocrinology
  • Genetics
  • Metabolic Disorders

Background:

  • Prader-Willi syndrome (PWS) presents with obesity, cognitive, behavioral, and bone issues.
  • Irisin, a myokine, influences brain, adipose tissue, and bone metabolism.
  • Investigating irisin in PWS patients is crucial for understanding disease mechanisms.

Purpose of the Study:

  • To explore circulating irisin levels in children and adult PWS patients.
  • To correlate irisin levels with clinical, metabolic, cognitive, and bone parameters in PWS.
  • To identify factors influencing irisin levels in PWS.

Main Methods:

  • Enrolled 78 PWS subjects (26 children, 52 adults) and controls.
  • Measured serum irisin levels and analyzed correlations with anthropometric, metabolic, cognitive, and bone mineral density data.
  • Performed multiple regression analysis to identify predictors of irisin levels.

Main Results:

  • Overall irisin serum levels did not differ between PWS patients and controls.
  • Pediatric and adult PWS patients with the DEL15 genetic deletion showed significantly lower irisin levels.
  • 25(OH) vitamin D levels influenced irisin concentration in pediatric PWS, with lower levels in non-supplemented patients.

Conclusions:

  • Genetic background (DEL15) and 25(OH) vitamin D supplementation play a role in regulating serum irisin levels in PWS patients.
  • Irisin levels in PWS are influenced by genetic factors and vitamin D status.
  • Further research is warranted to elucidate the precise role of irisin in PWS pathophysiology.
Abstract

Keywords:
IrisinPrader–Willi syndromeVitamin D supplementation

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