Document Detail


Sort1, encoded by the cardiovascular risk locus 1p13.3, is a regulator of hepatic lipoprotein export.
MedLine Citation:
PMID:  20816088     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Recent genome-wide association studies (GWAS) have revealed strong association of hypercholesterolemia and myocardial infarction with SNPs on human chromosome 1p13.3. This locus covers three genes: SORT1, CELSR2, and PSRC1. We demonstrate that sortilin, encoded by SORT1, is an intracellular sorting receptor for apolipoprotein (apo) B100. It interacts with apoB100 in the Golgi and facilitates the formation and hepatic export of apoB100-containing lipoproteins, thereby regulating plasma low-density lipoprotein (LDL) cholesterol. Absence of sortilin in gene-targeted mice reduces secretion of lipoproteins from the liver and ameliorates hypercholesterolemia and atherosclerotic lesion formation in LDL receptor-deficient animals. In contrast, sortilin overexpression stimulates hepatic release of lipoproteins and increases plasma LDL levels. Our data have uncovered a regulatory pathway in hepatic lipoprotein export and suggest a molecular explanation for the cardiovascular risk being associated with 1p13.3.
Authors:
Mads Kjolby; Olav M Andersen; Tilman Breiderhoff; Anja W Fjorback; Karen Marie Pedersen; Peder Madsen; Pernille Jansen; Joerg Heeren; Thomas E Willnow; Anders Nykjaer
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Cell metabolism     Volume:  12     ISSN:  1932-7420     ISO Abbreviation:  Cell Metab.     Publication Date:  2010 Sep 
Date Detail:
Created Date:  2010-09-06     Completed Date:  2010-11-04     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101233170     Medline TA:  Cell Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  213-23     Citation Subset:  IM    
Copyright Information:
2010 Elsevier Inc. All rights reserved.
Affiliation:
The Lundbeck Foundation Research Center MIND, Department of Medical Biochemistry, Aarhus University, Denmark.
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MeSH Terms
Descriptor/Qualifier:
Adaptor Proteins, Vesicular Transport / genetics*,  metabolism
Animals
Apolipoprotein B-100 / metabolism*
Biological Transport
Cardiovascular Diseases / genetics*
Cells, Cultured
Chromosomes, Human, Pair 1 / genetics*
Diet
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Hypercholesterolemia / genetics,  metabolism
Lipoproteins, LDL / blood
Liver / cytology,  metabolism*
Mice
Mice, Inbred C57BL
Mice, Knockout
Receptors, LDL / genetics,  metabolism
Chemical
Reg. No./Substance:
0/Adaptor Proteins, Vesicular Transport; 0/Apolipoprotein B-100; 0/Lipoproteins, LDL; 0/Receptors, LDL; 0/sortilin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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