Progress of research on the pathogenesis of obesity in Bardet-Biedl syndrome.
- Author:
Hongdan SHENG
1
;
Zongli WANG
;
Tao SHEN
Author Information
1. College of Medicine, Kunming University of Science and Technology, Kunming, Yunnan 650504, China. ts902@126.com.
- Publication Type:Journal Article
- MeSH:
Bardet-Biedl Syndrome;
genetics;
Humans;
Obesity;
genetics;
Phenotype;
Polydactyly;
genetics
- From:
Chinese Journal of Medical Genetics
2016;33(6):871-874
- CountryChina
- Language:Chinese
-
Abstract:
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disease characterized by retinopathy, obesity, and polydactyly. So far 21 candidate genes have been discovered, and mutations of such genes can all cause the BBS phenotype. As one of the main features of the disease, the obesity in BBS has been associated with leptin resistance and abnormal adipogenesis. However, its molecular etiology is not yet completely clear. Here the molecular mechanism of BBS-associated obesity is reviewed.
