Lipoprotein receptors and genetic control of cholesterol metabolism in cultured human cells.

Biochemical analysis of cultured fibroblasts obtained from human subjects with the autosomal dominant disorder familial hypercholesterolemia has led to the identification of a hitherto unrecognized cell-surface receptor for serum lipoproteins. This receptor plays a critical role in the physiologic regulation of cholesterol metabolism in human cells, and its absence leads to elevation of serum-cholesterol levels and severe atheroslerosis.