Document Detail


Molecular etiology of a dominant form of type III hyperlipoproteinemia caused by R142C substitution in apoE4.
MedLine Citation:
PMID:  20861163     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We have used adenovirus-mediated gene transfer in apolipoprotein (apo)E(-/-) mice to elucidate the molecular etiology of a dominant form of type III hyperlipoproteinemia (HLP) caused by the R142C substitution in apoE4. It was found that low doses of adenovirus expressing apoE4 cleared cholesterol, whereas comparable doses of apoE4[R142C] greatly increased plasma cholesterol, triglyceride, and apoE levels, caused accumulation of apoE in VLDL/IDL/LDL region, and promoted the formation of discoidal HDL. Co-expression of apoE4[R142C] with lecithin cholesterol acyltransferase (LCAT) or lipoprotein lipase (LPL) in apoE(-/-) mice partially corrected the apoE4[R142C]-induced dyslipidemia. High doses of C-terminally truncated apoE4[R142C]-202 partially cleared cholesterol in apoE(-/-) mice and promoted formation of discoidal HDL. The findings establish that apoE4[R142C] causes accumulation of apoE in VLDL/IDL/LDL region and affects in vivo the activity of LCAT and LPL, the maturation of HDL, and the clearance of triglyceride-rich lipoproteins. The prevention of apoE4[R142C]-induced dyslipidemia by deletion of the 203-299 residues suggests that, in the full-length protein, the R142C substitution may have altered the conformation of apoE bound to VLDL/IDL/LDL in ways that prevent triglyceride hydrolysis, cholesterol esterification, and receptor-mediated clearance in vivo.
Authors:
Alexander M Vezeridis; Konstantinos Drosatos; Vassilis I Zannis
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural     Date:  2010-09-22
Journal Detail:
Title:  Journal of lipid research     Volume:  52     ISSN:  0022-2275     ISO Abbreviation:  J. Lipid Res.     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2010-12-14     Completed Date:  2011-06-21     Revised Date:  2012-01-02    
Medline Journal Info:
Nlm Unique ID:  0376606     Medline TA:  J Lipid Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  45-56     Citation Subset:  IM    
Affiliation:
Molecular Genetics, Whitaker Cardiovascular Institute, Boston University School of Medicine, Boston, MA, USA.
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MeSH Terms
Descriptor/Qualifier:
Animals
Apolipoprotein E4 / genetics*
Cells, Cultured
Humans
Hyperlipoproteinemia Type III / genetics*,  metabolism
Mice
Mice, Transgenic
Microscopy, Electron
Mutation
Phenotype
Phosphatidylcholine-Sterol O-Acyltransferase / genetics,  metabolism
Triglycerides / blood,  metabolism
Grant Support
ID/Acronym/Agency:
HL007969/HL/NHLBI NIH HHS; HL68216/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
0/Apolipoprotein E4; 0/Triglycerides; EC 2.3.1.43/Phosphatidylcholine-Sterol O-Acyltransferase
Comments/Corrections
Erratum In:
J Lipid Res. 2011 Jun;52(6):1303

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