MUTATIONS OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE AND FAMILIAL HYPERCHOLESTEROLEMIA

Familial hypercholesterolemia (FH), an autosomal dominant disorder cau sed by mutation of the low-density-lipoprotein (LDL) receptor occurs i n about one in 500 individuals. The evaluation of naturally occurring mutants has permitted an extensive structure-function analysis of this receptor that has provided insight into the biochemistry and cell bio logy of cell-surface receptors in general. Novel gene therapeutic appr oaches to the management of FH ave a developing outgrowth of this rese arch.