SNORD116 and growth hormone therapy impact IGFBP7 in Prader-Willi syndrome.

ABSTRACT:

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 IGFBP

SUBMITTER: Eddiry S 

PROVIDER: S-EPMC8460435 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature