Journal article
GPIHBP1: a new chylomicronemia gene
Future lipidology, Vol.3(2), pp.203-216
04/01/2008
DOI: 10.2217/17460875.3.2.203
Abstract
Gpihbp1-deficient mice exhibit severe chylomicronemia, even on a low-fat diet, with grossly lipemic plasma and plasma triglyceride levels as high as 5000 mg/dl. GPIHBP1 is expressed on the luminal surface of endothelial cells of heart, muscle and fat, precisely where the lipolytic processing of triglyceride-rich lipoproteins occurs. When GPIHBP1 is expressed in cultured cells, it confers upon those cells the capacity to bind both chylomicrons and lipoprotein lipase, suggesting that GPIHBP1 is a key platform for the lipolytic processing of chylomicrons in capillaries. These cell culture and mouse studies suggested the possibility that some cases of hypertriglyceridemia in humans might be caused by defects in GPIHBP1. In a recent study, the exons of GPIHBP1 were sequenced in 160 patients with severe hypertriglyceridemia, and a homozygous G56R mutation was identified in two siblings with chylomicronemia. This mutation was not encountered in 600 normolipidemic Caucasian control subjects or 610 Caucasian patients with hyperlipidemia. Although the finding of a homozygous GPIHBP1 mutation in two siblings was intriguing, recent cell culture studies have suggested that the G56R mutation may not alter GPIHBP1 function. Additional sequencing efforts in diverse populations will be required to understand the relevance of GPIHBP1 mutations to human hypertriglyceridemia.
Details
- Title: Subtitle
- GPIHBP1: a new chylomicronemia gene
- Creators
- Anne Beigneux - Department of Medicine, Division of Cardiology, David Geffen School of Medicine, University of CaliforniaPeter Gin - Department of Medicine, Division of Cardiology, David Geffen School of Medicine, University of CaliforniaBrandon Davies - Department of Medicine, Division of Cardiology, David Geffen School of Medicine, University of CaliforniaLiya Yin - Department of Medicine, Division of Cardiology, David Geffen School of Medicine, University of CaliforniaMichael Weinstein - Department of Human Genetics, David Geffen School of Medicine, University of CaliforniaAndré Bensadoun - Cornell UniversityLoren Fong - Department of Medicine, Division of Cardiology, David Geffen School of Medicine, University of CaliforniaStephen Young - Department of Human Genetics & Division of Cardiology, David Geffen School of Medicine, University of California
- Resource Type
- Journal article
- Publication Details
- Future lipidology, Vol.3(2), pp.203-216
- Publisher
- Taylor & Francis
- DOI
- 10.2217/17460875.3.2.203
- ISSN
- 1746-0875
- Language
- English
- Date published
- 04/01/2008
- Academic Unit
- Fraternal Order of Eagles Diabetes Research Center; Biochemistry and Molecular Biology
- Record Identifier
- 9984293072602771
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