Hypercholesterolemia is a major risk factor for atherosclerosis and heart disease. Current cholesterol-limiting therapies fail in some patients, where additional therapeutic targets are needed. PCSK9 encodes a pro-protein convertase subtilisin/kexin type 9a that plays an important role in cholesterol metabolism by the modulation of LDL receptor levels in the liver. Gain-of-function mutations of PCSK9 resulted in elevated levels of LDL-cholesterol in the plasma. Loss-of-function mutations led to high levels of the LDL receptor and low LDL-cholesterol. This review foc...
