Example are damaging mutations on genes involved in hepatic uptake of Low Density Lipoprotein (LDL), as the Low Density Lipoprotein Receptor (LDLR) gene, causing familial hypercholesterolemia characterized by elevated levels of LDL and total plasma cholesterol but with normal concentrations of triglycerides [2]. The gene discussed is LDLR; the disease is familial hypercholesterolemia.