Familial hypercholesterolemia (one form of familial type II hyperlipoproteinemia). A study of its biochemical, genetic and clinical presentation in childhood.
Control of sterol synthesis and of hydroxymethylglutaryl CoA reductase in skin fibroblasts grown from patients with homozygous type II hyperlipoproteinemia.
Some patients with familial hypercholesterolemia (FHC, type II) are highly responsive to the cholesterol-lowering effect of clofibrate, while others are not only resistant to this effect but may even show an increase in plasma beta-lipoproteins.
Some patients with familial hypercholesterolemia (FHC, type II) are highly responsive to the cholesterol-lowering effect of clofibrate, while others are not only resistant to this effect but may even show an increase in plasma beta-lipoproteins.
Some patients with familial hypercholesterolemia (FHC, type II) are highly responsive to the cholesterol-lowering effect of clofibrate, while others are not only resistant to this effect but may even show an increase in plasma beta-lipoproteins.
In this report we compare the cord blood lipoproteins of a newborn boy homozygote who has low density lipoprotein (LDL) receptor-defective familial hypercholesterolemia (FH) with the lipoproteins from cord blood of normal newborns.
Monoclonal antibodies to the low density lipoprotein receptor as probes for study of receptor-mediated endocytosis and the genetics of familial hypercholesterolemia.
Median 125I-LDL association levels in these groups appeared to be in agreement with hypothesis that two different geno-types in HC heterozygotes and three in non-HCs determined LDL receptor activity.
We studied the effects of the bile acid sequestrant cholestyramine, alone and in combination with the experimental agent compactin (ML-236B), a competitive inhibitor of 3-hydroxy-3-methylglutaryl coenzyme A reductase, on serum levels of lipoproteins in 10 heterozygous patients with familial hypercholesterolemia.
In contrast, similarly incubated LDL receptor-negative fibroblasts (from a patient with the homozygous form of familial hypercholesterolemia) only increased from 18 to 39 ng of tocopherol per mg. Estimation of the amount of LDL degraded from the cellular tocopherol uptake by normal cells yielded values virtually identical to the actual values of protein degradation as measured using 125I-LDL.