Faculty Advisor

Adams, David S.

Center

UMMC / University of Massachusetts Medical Center

Abstract

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.

Publisher

Worcester Polytechnic Institute

Date Accepted

April 2013

Major

Biology and Biotechnology

Project Type

Major Qualifying Project

Accessibility

Unrestricted

Advisor Department

Biology and Biotechnology

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