J. Lipid Res.
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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
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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.


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