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Ann Clin Biochem. 2014 Mar;51(Pt 2):294-7. doi: 10.1177/0004563213498711. Epub 2013 Sep 30.

Lipoprotein lipase activity in heterozygotes for lipoprotein lipase gene mutations reveals a gender bias.

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  • 1Okinaka Memorial Institute for Medical Research, Tokyo, Japan.

Abstract

BACKGROUND:

Familial lipoprotein lipase (LPL) deficiency is a very rare autosomal recessive disorder characterized by marked elevation of plasma triglyceride concentrations. Since 1989, a variety of mutations have been reported in affected patients. Studies on subjects with heterozygous LPL deficiency, on the other hand, have been limited.

METHODS:

We examined post-heparin plasma LPL activity in 15 subjects with heterozygous LPL deficiency.

RESULTS:

The heterozygotes exhibited normal or slightly elevated plasma triglyceride concentrations. The mean LPL activity was reduced by 25% in the heterozygotes relative to controls. Interestingly, LPL activity was reduced specifically in female heterozygotes.

CONCLUSION:

LPL activity is decreased in female, but not in male, subjects heterozygous for a number of different LPL gene mutations.

KEYWORDS:

Familial lipoprotein lipase deficiency; lipoprotein lipase activity; lipoprotein lipase gene mutation; obligate heterozygotes; serum triglyceride concentrations

PMID:
24081181
[PubMed - indexed for MEDLINE]
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