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Molecular basis of the obesity associated with Bardet-Biedl syndrome.
MedLine Citation:
PMID:  21514177     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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 could 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.
Authors:
Deng-Fu Guo; Kamal Rahmouni
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-4-20
Journal Detail:
Title:  Trends in endocrinology and metabolism: TEM     Volume:  -     ISSN:  1879-3061     ISO Abbreviation:  -     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-4-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9001516     Medline TA:  Trends Endocrinol Metab     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 Elsevier Ltd. All rights reserved.
Affiliation:
Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
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