Familial Hypercholesterolemia: EVIDENCE FOR A NEWLY RECOGNIZED MUTATION DETERMINING INCREASED FIBROBLAST RECEPTOR AFFINITY BUT DECREASED CAPACITY FOR LOW DENSITY LIPOPROTEIN IN TWO SIBLINGS

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Abstract

Cultured skin fibroblasts were obtained from two siblings with classic clinical features of homozygous familial hypercholesterolemia. Plasma cholesterol values were 970 and 802 mg/100 ml in the siblings, 332 mg/100 ml in the mother, and 426 mg/100 ml in the father. Fibroblast receptor-specific capacity for binding and degradation of 125I-low density lipoprotein (LDL) at 37°C was 11% of normal, consistent with the diagnosis of “homozygous LDL receptor-defective” hypercholesterolemia, a disorder in which LDL binding activity is low but detectable.

Authors

Richard E. Ostlund Jr., Richard A. Levy, Joseph L. Witztum, Gustav Schonfeld