hrp0094fc2.4 | Fat, Metabolism and Obesity | ESPE2021

PTEN germline mutations lead to adipose tissue overgrowth mediated via FOXO1 and SREBP1.

Kirstein Anna , Kehr Stephanie , Nebe Michele , Kiess Wieland , Garten Antje ,

Background and Aim: Pediatric patients with germline mutations in the tumor suppressor gene PTEN (PTEN hamartoma tumor syndrome, PHTS) frequently develop lipomas. PTEN antagonizes phosphoinositide 3-kinase (PI3K) signaling, which can induce adipogenesis upon activation through insulin. The PI3K downstream target AKT can deactivate FOXO1 via phosphorylation, initiating the expression of the lipogenesis activating transcription factor SREBP1. To study t...