title: [Genetic disorders causing abnormal LDL-cholesterol levels].
abstract: Various epidemiological studies and lipid intervention trials have revealed that serum LDL-cholesterol level correlates to the incidence in ischemic heart disease, and decreasing the level can prevent cardiac events. Inherited diseases causing abnormal LDL-cholesterol levels are discussed in this article, including their animal models. Familial hypercholesterolemia, familial ligand-defective apolipoprotein B100, familial combined hyperlipidemia and cholesterol ester storage disease result in elevation of serum LDL-cholesterol. On the other hand, serum LDL-cholesterol is decreased in abetalipoproteinemia and familial hypobetalipoproteinemia. The development of genetic engineering technology has elucidated the mechanism of these genetic disorders and elaborated their animal models. Although most of them cause atherosclerotic or psychoneurological diseases, fundamental therapy remains to be established, such as gene therapy.
authors.affiliation: Department of Geriatric Medicine, Graduate School of Medicine, Kyoto University.
authors.forename: T
authors.initials: T
authors.lastname: Murayama
mesh_terms: D000012:Abetalipoproteinemia / Q000097:blood*; D000818:Animals; D015217:Cholesterol Ester Storage Disease / Q000097:blood*; D008078:Cholesterol, LDL / Q000097:blood*; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood*
chemical_list: D008078:Cholesterol, LDL