Abstract
The incorporation of radioactive acetate into the digitonin precipitable fraction (cholesterol) was measured in monolayers of primary cultures of skin fibroblasts. Mean incorporation was increased approximately 20-fold in 4 subjects homozygous for familial hypercholesterolemia (FH) and 4-fold in 6 heterozygotes derived from the immediate family of homozygotes. Incorporation was normal in 4 subjects with Type IV and V hyperlipoproteinemia. In cells that had been preincubated in lipid free medium, incorporation by cells from homozygotes was equal to controls, denoting a derangement in the feedback inhibition of cholesterol synthesis by medium lipids in FH. The activity of the enzyme 3-hydroxy-3-methylglutaryl coenzyme A reductase paralleled the values obtained for sterol synthesis. The assay described could be useful in making an “etiologic” diagnosis of familial hypercholesterolemia and could possibly identify variants of monogenic hyperbetalipoproteinemia.
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