Abstract
Lipoprotein lipase (LPL) deficiency and anomalies of LDL catabolism are both responsible for hypertriglyceridaemia and hypercholesterolaemia. Genes coding for apolipoprotein (apo)CII, the obligate LPL activator, and apo E, the signal part of LDL for its receptor captation, are closely linked on chromosome 19. He report here an unique case of a patient in whom a defect affecting both proteins has been demonstrated.
Plasma triglycerides (5000-7000 mg/dl) and cholesterol (500-700 mg/dl) were transported primarily by a small chylomicron remnant particle which contained apo B-48, B-100, apo AI and AIV but no detectable apo E by immunoassay or by Western blot of isoelectric focussing gels. Activation of LPL was reduced to 20 % of normal while plasma apo CII concentration were elevated 3-5 fold over normal values. Two dimensional electrophoresis with immunoblotting for apolipoproteins revealed apo CII with approximately the same molecular weight but with a different net electric charge than normal apo CII. The proband's parents who were first cousins, had slight elevations of triglycerides but no obvious abnormalities of apo CII. The subject was placed on fish oil diet. Despite a rapid increase in the content of eicosapentanoic acid (from 0.5% to 6,8 %) and docosahexaenoic acid (from 1.0 to 7.2 %) in plasma triglycerides there essentially was no change in plasma triglyceride concentration.
These data are consistent with the hypothesis that the patient is homozygote for a deletion affecting a segment of DNA coding for both a small part of apo CII and an important part of apo E. They suggest also that apo CII and apo E have coordinate regulation and may be processed together.
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Rebourcet, R., Breckenridge, W., Bresson, J. et al. 89 HYPERLIPOPROTEINEMIA ASSOCIATED WITH APO C-II VARIANTS AND APO E DEFICIENCY. Pediatr Res 24, 420 (1988). https://doi.org/10.1203/00006450-198809000-00112
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DOI: https://doi.org/10.1203/00006450-198809000-00112