Conclusions We describe two novel homozygous mutations (p.Q25X [c.73C>T] and IVS2+6T>G [c.55+6T>G]) in the APOC2 gene in infants with hyperchylomicronemia.
Familial chylomicronemia is a recessive disorder that may be due to mutations in lipoprotein lipase (LPL) and in other proteins such as apolipoprotein C-II and apolipoprotein A-V (activators of LPL), GPIHBP1 (the molecular platform required for LPL activity on endothelial surface), and LMF1 (a factor required for intracellular formation of active LPL).
We have created an apoc2 knockout zebrafish model, which mimics the familial chylomicronemia syndrome (FCS) in human patients with a defect in the APOC2 or LPL gene.
The purpose of this review is to detail this molecular genetic progress for two of the disorders that result in disturbed triglyceride metabolism in infants, lipoprotein lipase deficiency and apo CII deficiency, and four disorders that lead to disturbed cholesterol levels in infancy, abetalipoproteinemia, hypobetalipoproteinemia, familial defective apo B, and familial hypercholesterolemia.
We studied the molecular basis of familial Type I hyperlipoproteinemia in two brothers of Turkish descent who had normal plasma apolipoprotein C-II levels and undetectable plasma post-heparin lipoprotein lipase (LPL) activity.
The purpose of this study was to analyze the physicochemical modifications of plasma lipoproteins produced by LPL activation in two patients with apoC-II deficiency syndrome and by HL activation in two patients with LPL deficiency.
Plasma VLDL-TG turnover rate was not decreased in one of the siblings with apoC-II and LPL deficiency, suggesting different metabolic pathways for chylomicrons and VLDL.