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SNORD116 and growth hormone therapy impact IGFBP7 in Prader–Willi syndrome
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SNORD116 and growth hormone therapy impact IGFBP7 in Prader–Willi syndrome
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Journal Article
SNORD116 and growth hormone therapy impact IGFBP7 in Prader–Willi syndrome
2021
Overview
Purpose
Prader–Willi syndrome (PWS) is a neurodevelopmental disorder with hypothalamic dysfunction due to deficiency of imprinted genes located on the 15q11-q13 chromosome. Among them, the
SNORD116
gene appears critical for the expression of the PWS phenotype. We aimed to clarify the role of
SNORD116
in cellular and animal models with regard to growth hormone therapy (GHT), the main approved treatment for PWS.
Methods
We collected serum and induced pluripotent stem cells (iPSCs) from GH-treated PWS patients to differentiate into dopaminergic neurons, and in parallel used a
Snord116
knockout mouse model. We analyzed the expression of factors potentially linked to GH responsiveness.
Results
We found elevated levels of circulating IGFBP7 in naive PWS patients, with IGFBP7 levels normalizing under GHT. We found elevated IGFBP7 levels in the brains of
Snord116
knockout mice and in iPSC-derived neurons from a SNORD116-deleted PWS patient. High circulating levels of IGFBP7 in PWS patients may result from both increased
IGFBP7
expression and decreased IGFBP7 cleavage, by downregulation of the proconvertase PC1.
Conclusion
SNORD116
deletion affects IGFBP7 levels, while IGFBP7 decreases under GHT in PWS patients. Modulation of the IGFBP7 level, which interacts with IGF1, has implications in the pathophysiology and management of PWS under GHT.
Graphical Abstract
Publisher
Nature Publishing Group US,Elsevier Limited,Nature Publishing Group
