Mutations in the LDL Receptor

Low-density lipoprotein (LDL) is the main carrier
of cholesterol in the blood. An LDL particle
has a diameter of 22 nm and a molecular mass
of about 3000 kDa. Its hydrophobic core contains
about 1500 esterified cholesterol
molecules surrounded by an outer layer of
phospholipids and unesterified cholesterols
containing a single apoB-100 lipoprotein
molecule. LDL delivers cholesterol to peripheral
tissues and regulates de novo cholesterol synthesis
there. Mutations in the LDL receptor gene
or in the ligand apoB-100 lipoprotein result in
hypercholesterolemia.