The blind leading the obese: the molecular pathophysiology of a human obesity syndrome

Val C Sheffield

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Journal article

The blind leading the obese: the molecular pathophysiology of a human obesity syndrome

Val C Sheffield

Transactions of the American Clinical and Climatological Association, Vol.121, pp.172-182

2010

PMCID: PMC2917141

PMID: 20697559

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Abstract

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder affecting multiple organ systems and resulting in blindness, obesity, cognitive impairment, and congenital defects. Interest in the etiology of this disorder stems, in part, from the fact that patients with BBS develop common clinical problems, including obesity, diabetes and hypertension. Twelve genes independently causing BBS have been identified. The heterogeneity is explained by the existence of two BBS complexes, the BBSome consisting of seven known BBS proteins, and the BBS chaperone complex consisting of three known BBS proteins. The formation of the BBSome requires the function of the BBS chaperone complex. Both mouse and zebrafish data support a role for BBS genes in cilia function, and in intracellular and intraflagellar trafficking. From the work described here, a common primary function of BBS proteins has emerged, specifically the mediation and regulation of microtubule-based intracellular transport.

Microtubule-Associated Proteins - genetics

Blindness - physiopathology

Humans

Male

Multiprotein Complexes - genetics

Obesity - physiopathology

Zebrafish

Bardet-Biedl Syndrome - physiopathology

Genes, Recessive

Obesity - genetics

Blindness - genetics

Mice, Knockout

Multiprotein Complexes - physiology

Protein Interaction Mapping

Animals

Models, Biological

Bardet-Biedl Syndrome - genetics

Mice

Protein Interaction Domains and Motifs

Microtubule-Associated Proteins - deficiency

Disease Models, Animal

Details

Title: Subtitle: The blind leading the obese: the molecular pathophysiology of a human obesity syndrome
Creators: Val C Sheffield - Department of Pediatrics, Division of Medical Genetics, Howard Hughes Medical Institute, 4181 MERF, University of Iowa Iowa City, IA 52242, USA. val-sheffield@uiowa.edu
Resource Type: Journal article
Publication Details: Transactions of the American Clinical and Climatological Association, Vol.121, pp.172-182
Publisher: United States
PMID: 20697559
PMCID: PMC2917141
ISSN: 0065-7778
Grant note: R01 EY011298 / NEI NIH HHS Howard Hughes Medical Institute
Language: English
Date published: 2010
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9984065492802771

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