Genetics of lipoprotein disorders.
Lipoproteins are circulating complexes of lipids and proteins, the transport and metabolism of which are directly controlled by apolipoproteins A-I, A-II, A-IV, B, C-I, C-II, C-III, D, E, and (a); lipoprotein-processing proteins lipoprotein lipase, hepatic lipase, lecithin-cholesterol acyltransferase, and cholesteryl ester-transfer protein; and lipoprotein receptors, low density lipoprotein (LDL) receptor, chylomicron remnant receptor, and scavenger receptors. Studies have shown a close association between lipoprotein abnormalities and coronary artery disease susceptibility. Four types of abnormalities are frequently seen: increased LDL cholesterol levels; decreased high density lipoprotein cholesterol levels, usually accompanied by increased triglyceride or very low density lipoprotein levels; increased concentrations of chylomicron remnants and intermediate density lipoproteins; and increased concentrations of an abnormal lipoprotein, lipoprotein (a). One or more of these abnormalities is present in 50-80% of myocardial infarction survivors. The exact pathogenic process whereby each of these abnormalities causes coronary artery disease is a subject of active investigation but beyond the scope of this brief presentation. However, the genetic contribution to each of these abnormal lipoprotein phenotypes is coming into focus and is discussed.
Breslow
J L
JL
Rockefeller University Laboratory of Biochemical Genetics and Metabolism, New York, NY 10021-6399.
D001053:Apolipoproteins / Q000235:genetics*; D002784:Cholesterol / Q000235:genetics; D003327:Coronary Disease / Q000097:blood*; D006801:Humans; D006951:Hyperlipoproteinemias / Q000235:genetics*; D007009:Hypolipoproteinemias / Q000235:genetics*; D008074:Lipoproteins / Q000097:blood / Q000235:genetics*; D010641:Phenotype; D014280:Triglycerides / Q000235:genetics
D001053:Apolipoproteins; D008074:Lipoproteins; D014280:Triglycerides; D002784:Cholesterol