J. Lipid Res.
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Originally published In Press as doi:10.1194/jlr.M200479-JLR200 on June 1, 2003

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Journal of Lipid Research, Vol. 44, 1508-1514, August 2003
Copyright © 2003 by American Society for Biochemistry and Molecular Biology

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

Isabelle L. Ruel*,{dagger}, Patrick Couture{dagger}, Claude Gagné{dagger}, Yves Deshaies§, Jacques Simard**, Robert A. Hegele{dagger}{dagger} and Benoît Lamarche1,*,{dagger}

* Institute on Nutraceuticals and Functional Foods, CHUL Research Center, Laval University, Québec, Canada
{dagger} Lipid Research Center, CHUL Research Center, Laval University, Québec, Canada
§ Department of Anatomy and Physiology, CHUL Research Center, Laval University, Québec, Canada
** Cancer Genomics Laboratory, CHUL Research Center, Laval University, Québec, Canada
{dagger}{dagger} John P. Robarts Research Institute, London, Ontario, Canada

1 To whom correspondence should be addressed. e-mail: benoit.lamarche{at}inaf.ulaval.ca

Individuals with hepatic lipase (HL) deficiency are often characterized by elevated levels of triglycerides (TGs) 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 nonpolar region of the protein involved in the catalytic activity of the enzyme. The severe HL deficiency among the three related compound heterozygotes was associated with a marked TG enrichment of LDL and HDL particles. The two men with severe HL deficiency also presented with abdominal obesity, which appeared to amplify the impact of HL deficiency on plasma TG-rich lipoprotein 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.

Abbreviations: CHD, coronary heart disease; HL, hepatic lipase; LPL, lipoprotein lipase; QHLD, Québec-based hepatic lipase deficiency; TG, triglyceride

Supplementary key words lipid • lipoprotein • metabolism • abdominal obesity


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