Journal article
Molecular basis of the obesity associated with Bardet-Biedl syndrome
Trends in endocrinology and metabolism, Vol.22(7), pp.286-293
07/2011
DOI: 10.1016/j.tem.2011.02.009
PMCID: PMC3130119
PMID: 21514177
Abstract
Bardet-Biedl Syndrome (BBS) is a rare human hereditary disorder associated with several features including obesity, retinopathy, renal defects, polydactyly, learning disabilities and hypogenitalism. This article discusses the abnormalities accounting for energy imbalance leading to obesity in BBS with emphasis on the recent evidence pointing to aberrations in hypothalamic action of leptin. Indeed, BBS proteins have emerged as important mediators of leptin receptor trafficking, and loss of BBS genes results in leptin resistance that may be due to abnormal leptin receptor handling in a subset of leptin responsive neurons. These recent discoveries hold promise for improved clinical management of BBS patients. The relevance of these findings to non-syndromic common obesity is also discussed.
Details
- Title: Subtitle
- Molecular basis of the obesity associated with Bardet-Biedl syndrome
- Creators
- Deng-Fu Guo - Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, Iowa, USAKamal Rahmouni - Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA
- Resource Type
- Journal article
- Publication Details
- Trends in endocrinology and metabolism, Vol.22(7), pp.286-293
- DOI
- 10.1016/j.tem.2011.02.009
- PMID
- 21514177
- PMCID
- PMC3130119
- NLM abbreviation
- Trends Endocrinol Metab
- ISSN
- 1043-2760
- eISSN
- 1879-3061
- Grant note
- P01 HL084207-05 || HL / National Heart, Lung, and Blood Institute : NHLBI
- Language
- English
- Date published
- 07/2011
- Academic Unit
- Iowa Neuroscience Institute; Neuroscience and Pharmacology; Internal Medicine
- Record Identifier
- 9984040561202771
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