Molecular mechanisms of the obesity associated with Bardet-Biedl syndrome: An update.

Abstract

Obesity is a prominent feature of Bardet-Biedl syndrome (BBS), which represents a major and growing public health problem. More than half of BBS patients carry mutations in one of eight genes that encode subunits of a protein complex known as the BBSome, which has emerged as a key regulator of energy and glucose homeostasis. However, the mechanisms underlying obesity in BBS are complex. Numerous studies have identified a high prevalence of insulin resistance and metabolic syndrome among individuals with BBS. However, the exact mechanisms are not fully understood. This review summarized evidence from experiments using mouse and cell models, focusing on the energy imbalance that leads to obesity in patients with BBS. The studies discussed in this review contribute to understanding the functional role of the BBSome in the obesity associated with BBS, laying the foundation for developing new preventive or therapeutic strategies for obese patients.