Bardet-Biedl Syndrome 2 (BBS2) Depletion Affects Primary Cilia in Pancreatic Islets and Glucose Homeostasis

Bardet-Biedl Syndrome (BBS) is a pleiotropic ciliopathy characterized by a unique phenotype including obesity and type II diabetes, which has drawn attention to the disease as a way to discover new biochemical and developmental pathways related to the disease’s phenotypic manifestations. BBS2 knockout resulted in low insulin levels, disregulation of glucose homeostasis, and a unique phenotype of atypically short primary cilia in pancreatic islet cells. BBS2 knockdown in vitro showed downregulation of the canonical wnt signaling pathway, s-phase cell cycle arrest, and supported the finding that BBS2 depletion leads to low insulin levels. Both the in vivo and in vitro experiments pointed to the importance of BBS2 for normal glucose homeostasis and provided a new model for diabetes research.