Document Detail


Niemann-Pick C1 modulates hepatic triglyceride metabolism and its genetic variation contributes to serum triglyceride levels.
MedLine Citation:
PMID:  20489167     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: To study how Niemann-Pick disease type C1 (NPC1) influences hepatic triacylglycerol (TG) metabolism and to determine whether this is reflected in circulating lipid levels. METHODS AND RESULTS: In Npc1(-/-) mice, the hepatic cholesterol content is increased but the TG content is decreased. We investigated lipid metabolism in Npc1(-/-) mouse hepatocytes and the association of NPC1 single-nucleotide polymorphisms with circulating TGs in humans. TGs were reduced in Npc1(-/-) mouse serum and hepatocytes. In Npc1(-/-) hepatocytes, the incorporation of [3H]oleic acid and [3H]acetate into TG was decreased, but shunting of oleic acid- or acetate-derived [3H]carbons into cholesterol was increased. Inhibition of cholesterol synthesis normalized TG synthesis, content, and secretion in Npc1(-/-) hepatocytes, suggesting increased hepatic cholesterol neogenesis as a cause for the reduced TG content and secretion. We found a significant association between serum TG levels and 5 common NPC1 single-nucleotide polymorphisms in a cohort of 1053 men, with the lowest P=8.7 x 10(-4) for the single-nucleotide polymorphism rs1429934. The association between the rs1429934 A allele and higher TG levels was replicated in 2 additional cohorts, which included 8041 individuals. CONCLUSIONS: This study provides evidence of the following: (1) in mice, loss of NPC1 function reduces hepatocyte TG content and secretion by increasing the metabolic flux of carbons into cholesterol synthesis; and (2) common variation in NPC1 contributes to serum TG levels in humans.
Authors:
Riikka-Liisa Uronen; Per Lundmark; Marju Orho-Melander; Matti Jauhiainen; Kristina Larsson; Agneta Siegbahn; Lars Wallentin; Björn Zethelius; Olle Melander; Ann-Christine Syvänen; Elina Ikonen
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-05-20
Journal Detail:
Title:  Arteriosclerosis, thrombosis, and vascular biology     Volume:  30     ISSN:  1524-4636     ISO Abbreviation:  Arterioscler. Thromb. Vasc. Biol.     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-07-15     Completed Date:  2010-08-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9505803     Medline TA:  Arterioscler Thromb Vasc Biol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1614-20     Citation Subset:  IM    
Affiliation:
Institute of Biomedicine/Anatomy, University of Helsinki, Finland.
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MeSH Terms
Descriptor/Qualifier:
Acetic Acid / metabolism
Aged
Animals
Carrier Proteins / genetics*
Cholesterol / biosynthesis*
Cohort Studies
Female
Gene Frequency
Genetic Predisposition to Disease
Hepatocytes / metabolism*
Humans
Liver / metabolism*
Male
Membrane Glycoproteins / genetics*
Mice
Mice, Inbred BALB C
Mice, Knockout
Niemann-Pick Disease, Type C / genetics*,  metabolism
Oleic Acid / metabolism
Phenotype
Polymorphism, Single Nucleotide*
Proteins / genetics*,  metabolism
Time Factors
Triglycerides / blood*
Chemical
Reg. No./Substance:
0/Carrier Proteins; 0/Membrane Glycoproteins; 0/NPC1 protein, human; 0/Npc1 protein, mouse; 0/Proteins; 0/Triglycerides; 112-80-1/Oleic Acid; 57-88-5/Cholesterol; 64-19-7/Acetic Acid

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


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