Brown_2009_J.Lipid.Res_50_1910

Reference

Title : A naturally occurring variant of endothelial lipase associated with elevated HDL exhibits impaired synthesis - Brown_2009_J.Lipid.Res_50_1910
Author(s) : Brown RJ , Edmondson AC , Griffon N , Hill TB , Fuki IV , Badellino KO , Li M , Wolfe ML , Reilly MP , Rader DJ
Ref : J Lipid Res , 50 :1910 , 2009
Abstract :

Human endothelial lipase (EL) is a member of a family of lipases and phospholipases that are involved in the metabolism of plasma lipoproteins. EL displays a preference to hydrolyze lipids in HDL. We report here that a naturally occurring low frequency coding variant in the EL gene (LIPG), glycine-26 to serine (G26S), is significantly more common in African-American individuals with elevated HDL cholesterol (HDL-C) levels. To test the hypothesis that this variant results in reduced EL function, we extensively characterized and compared the catalytic and noncatalytic functions of the G26S variant and wild-type (WT) EL. While the catalytic-specific activity of G26S EL is similar to WT EL, its secretion is markedly reduced. Consistent with this observation, we found that carriers of the G26S variant had significantly reduced plasma levels of EL protein. Thus, this N-terminal variant results in reduced secretion of EL protein, plausibly leading to increased HDL-C levels.

PubMedSearch : Brown_2009_J.Lipid.Res_50_1910
PubMedID: 19411705
Gene_locus related to this paper: human-LIPG

Related information

Mutation G26S_human-LIPG
Gene_locus G26S_human-LIPG    human-LIPG

Citations formats

Brown RJ, Edmondson AC, Griffon N, Hill TB, Fuki IV, Badellino KO, Li M, Wolfe ML, Reilly MP, Rader DJ (2009)
A naturally occurring variant of endothelial lipase associated with elevated HDL exhibits impaired synthesis
J Lipid Res 50 :1910

Brown RJ, Edmondson AC, Griffon N, Hill TB, Fuki IV, Badellino KO, Li M, Wolfe ML, Reilly MP, Rader DJ (2009)
J Lipid Res 50 :1910