Chylomicronemia With Low Postheparin Lipoprotein Lipase Levels in the Setting of GPIHBP1 Defects
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چکیده
منابع مشابه
Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.
BACKGROUND Recent studies in mice have established that an endothelial cell protein, glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1), is essential for the lipolytic processing of triglyceride-rich lipoproteins. METHODS AND RESULTS We report the discovery of a homozygous missense mutation in GPIHBP1 in a young boy with severe chylomicronemia. The muta...
متن کاملChylomicronemia with Low Postheparin Lipoprotein Lipase Levels in the Setting of GPIHBP1 Defects Franssen; A Key Role for GPIHBP1 in Triglyceride Metabolism in Humans
Background Recent studies in mice have established that an endothelial cell protein, GPIHBP1, is essential for the lipolytic processing of triglyceride-rich lipoproteins. Methods and Results We report the discovery of a homozygous missense mutation in GPIHBP1 in a young boy with severe chylomicronemia. The mutation, p.C65Y, replaces a conserved cysteine in the GPIHBP1’s Ly6 domain with a tyrosi...
متن کاملChylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.
OBJECTIVE GPIHBP1 is an endothelial cell protein that binds lipoprotein lipase (LPL) and chylomicrons. Because GPIHBP1 deficiency causes chylomicronemia in mice, we sought to determine whether some cases of chylomicronemia in humans could be attributable to defective GPIHBP1 proteins. METHODS AND RESULTS Patients with severe hypertriglyceridemia (n=60, with plasma triglycerides above the 95th...
متن کاملAutoantibodies against GPIHBP1 as a Cause of Hypertriglyceridemia.
BACKGROUND A protein that is expressed on capillary endothelial cells, called GPIHBP1 (glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1), binds lipoprotein lipase and shuttles it to its site of action in the capillary lumen. A deficiency in GPIHBP1 prevents lipoprotein lipase from reaching the capillary lumen. Patients with GPIHBP1 deficiency have low plasma leve...
متن کاملInteraction of rat plasma very low density lipoprotein with lipoprotein lipase-rich (postheparin) plasma.
Incubation of 125I-labeled very low density lipoprotein (VLDL) with lipoprotein lipase-rich (postheparin) plasma obtained from intact or supradiaphragmatic rats resulted in the transfer of more than 80% of apoprotein C from VLDL to high density lipoprotein (HDL), whereas apoprotein B was associated with lipoprotein of density less than 1.019 g/ml (intermediate lipoprotein). The transfer of 125I...
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ژورنال
عنوان ژورنال: Circulation: Cardiovascular Genetics
سال: 2010
ISSN: 1942-325X,1942-3268
DOI: 10.1161/circgenetics.109.908905