Familial autosomal dominant hypercholesterolemia is associated with high risk for
cardiovascular accidents and is related to mutations in the low density lipoprotein receptor
or its ligand apolipoprotein B (apoB). Mutations in a third gene, proprotein convertase
subtilisin kexin 9 (PCSK9), were recently associated to this disease. PCSK9 acts as a
natural inhibitor of the low density lipoprotein receptor pathway, and both genes are
regulated by depletion of cholesterol cell content and statins, via sterol regulatory element …