Familial apolipoprotein (apo) CII deficiency is a rare autosomal recessive inborn error of metabolism clinically resembling lipoprotein lipase deficiency. A number of mutations of the apo CII gene are known to date; they are located in the promoter region, the coding exons, or in the splice junctions. We present a simple assay based on PCR and denaturing gradient gel electrophoresis, which allo...

familial defective apolipoprotein (apo) b 100 (fdb) causes early-onset coronary heart diseases (chd). it is produced by r3500q mutation of the apob gene resulting in decreased binding of ldl to ldl receptor. we screened the apo b gene for r3500q mutation in 130 hypercholesterolemic patients, among whom 30 patients met criteria of familial hypercholesterolemia (fh). the prevalence of r3500q alle...

The recent discovery of a dysfunctional mutation of GPIHBP1 in a man with chylomicronemia implicates this protein in human physiology. GPIHBP1 can be placed in the larger context of other molecular participants in chylomicron docking and hydrolysis on microvascular endothelium, caloric delivery, and remnant lipoprotein generation. Critical questions include the regulation--and dysregulation--of...

Endocrinologists often diagnose and treat patients with Hypertriglyceridemia (HTG), but genetic causes like Familial Chylomicronemia Syndrome (FCS) Multifactorial (MCS) can be missed in everyday practice. These are caused by mutations the Lipoprotein Lipase (LPL) gene or genes required for LPL activity present treatment-refractory elevated fasting Triglycerides (TRGs) recurrent episodes of abdo...