Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

ABSTRACT:

Objective

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder of the primary cilium associated with obesity. In BBS mouse models, ciliary dysfunction leads to impaired leptin signaling and hyperleptinemia before obesity onset. To study the pathophysiology of obesity in BBS, we compared patients with BBS and body mass index Z-score (BMI-Z)-matched controls.

Design and methods

Fifty patients with BBS were matched 2:1 by age, sex, race, and BMI-Z with 100 controls. Patients with BBS and controls were compared for differences in body composition (dual-energy x-ray absorptiometry, abdominal magnetic resonance imaging), blood pressure Z-score (BP-Z; standardized for age, sex, and height), and fasting concentrations of leptin, lipids, insulin, and glucose. Patients

SUBMITTER: Feuillan PP 

PROVIDER: S-EPMC3047221 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature