1. Familial Hypercholesterolemia Scott Cooper, UW-La Crosse

3. FH Table 1. Plasma cholesterol levels in normal and familialhypercholesterolemic individuals. Plasma cholesterol Normal150-200 mg/dl Heterozygote250-500 mg/dl Homozygote600-1000 mg/dl

4. Table 2. Defects in the LDL receptor. DefectPhenotype SynthesisMost common defect, Receptor not synthesized in the ER TransportReceptor not transported to cell surface, accumulates inside cell LDL BindingReceptor on cell surface, can’t bind to apo B on LDL InternalizationReceptor binds to apo B on LDL, can’t internalize LDL RecyclingReceptor internalizes LDL, but isn’t recycled to cell surface

5. Figure 1. A schematic diagram of the LDL receptor. Defects in this receptor lead to FH.