J. Lipid Res. Please sign the JLR Guestbook
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH
QUICK SEARCH:   [advanced]


     

A more recent version of this article appeared on August 1, 2003

Papers In Press, published online ahead of print June 1, 2003
J. Lipid Res., doi:10.1194/jlr.M200479-JLR200
This Article
Right arrow Full Text (Accepted Manuscript)
Right arrow All Versions of this Article:
M200479-JLR200v1
44/8/1508    most recent
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Ruel, I. L.
Right arrow Articles by Lamarche, B.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Ruel, I. L.
Right arrow Articles by Lamarche, B.
Social Bookmarking
Add to CiteULike   Add to Complore   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati  
What's this?

Submitted on December 20, 2002
Revised on May 21, 2003
Accepted on May 22, 2003

Characterization of a novel mutation causing hepatic lipase deficiency among French-Canadians

Isabelle L. Ruel, Patrick Couture, Claude Gagné, Yves Deshaies, Jacques Simard, Robert A. Hegele, and Benoit Lamarche

Institute on Nutraceuticals and Functional Foods, Quebec, Qc G1K 7P4

Corresponding Author: benoit.lamarche{at}inaf.ulaval.ca

Hepatic lipase (HL) is a lipolytic enzyme involved in the intravascular hydrolysis of triglycerides (TG) and phospholipids in all major classes of lipoproteins. Individuals with HL deficiency are often characterized by elevated levels of TG and cholesterol. The aim of the present study was to characterize the molecular defect leading to severe HL deficiency in a Québec-based kindred. In the proband and two of her brothers, the very low to undetectable HL activity resulted from compound heterozygosity for two rare HL gene mutations, a previously unknown missense mutation in exon 5 designated A174T and the previously reported T383M mutation in exon 8 of the HL gene. The mutation at codon 174 resulted in the substitution of alanine for threonine, a polar amino acid, in a highly conserved non polar region of the protein involved in the catalytic activity of the enzyme. The severe HL deficiency among the three related compound heterozygotes for the A174T and T383M mutations was associated with a marked TG-enrichment of LDL and HDL particles. The two men with extremely low to undetectable HL lipolytic activity also presented with abdominal obesity, which appeared to amplify the impact of HL deficiency on plasma TG-rich lipoprotein (TRL) levels. Our results demonstrated that HL deficiency in this Québec kindred is associated with an abnormal lipoprotein-lipid profile, which may vary considerably in the presence of secondary factors such as abdominal obesity.


Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?


This article has been cited by other articles:


Home page
 Arterioscler. Thromb. Vasc. Bio.Home page
I. L. Ruel, B. Lamarche, J.-F. Mauger, K. O. Badellino, J. S. Cohn, M. Marcil, and P. Couture
Effect of Fenofibrate on Plasma Lipoprotein Composition and Kinetics in Patients With Complete Hepatic Lipase Deficiency
Arterioscler. Thromb. Vasc. Biol., December 1, 2005; 25(12): 2600 - 2607.
[Abstract] [Full Text] [PDF]

Home page
 Arterioscler. Thromb. Vasc. Bio.Home page
S. Santamarina-Fojo, H. Gonzalez-Navarro, L. Freeman, E. Wagner, and Z. Nong
Hepatic Lipase, Lipoprotein Metabolism, and Atherogenesis
Arterioscler. Thromb. Vasc. Biol., October 1, 2004; 24(10): 1750 - 1754.
[Abstract] [Full Text] [PDF]

Home page
 J. Lipid Res.Home page
I. L. Ruel, P. Couture, J. S. Cohn, A. Bensadoun, M. Marcil, and B. Lamarche
Evidence that hepatic lipase deficiency in humans is not associated with proatherogenic changes in HDL composition and metabolism
J. Lipid Res., August 1, 2004; 45(8): 1528 - 1537.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH
 All ASBMB Journals   Journal of Biological Chemistry 
 Molecular and Cellular Proteomics   ASBMB Today 
Copyright © 2003 by the American Society for Biochemistry and Molecular Biology.