Daniel J. Rader

Chapter 23 – Lipoprotein Disorders

Publisher Summary Plasma lipoproteins are integral to energy and cholesterol metabolism. Disorders involving lipoprotein metabolism can predispose to atherosclerotic vascular disease. Genetic factors play an important role in influencing lipoprotein metabolism and, therefore, plasma levels of major lipoproteins and risk for cardiovascular disease. Molecular characterization of classic Mendelian monogenic lipoprotein disorders provides insights into the physiology and regulation of lipoprotein metabolism, and new targets for therapeutic drug development. Lipoprotein metabolism is increasingly available for the application of genomic medicine because of the frequency with which plasma lipids are measured in clinical practice, the quantitative importance of genetics in determining their levels, the large number of gene products involved in lipoprotein metabolism, and the broad clinical relevance of the field to the most important cause of morbidity and mortality in most of the world. Lipoproteins are large macromolecular complexes that transport hydrophobic lipids through body fluids to and from tissues. Lipoproteins play an essential role in the absorption of dietary cholesterol, long-chain fatty acids, and fat-soluble vitamins; transport of triglycerides, cholesterol, and fat-soluble vitamins from the liver to peripheral tissues; and transport of cholesterol from peripheral tissues to the liver.