title: [Familial apolipoprotein B-100 defect, a newly discovered lipid metabolism disorder].
abstract: Familial defective apolipoprotein B-100 is a newly revealed genetic disorder which leads to a rise of atherogenic LDL lipoproteins. It is probably due to the replacement of a single amino acid in the huge apoliprotein B-100 molecule, i.e. substitution of glutamine by arginine in position 3,500. Thus altered LDL-lipoproteins are unable to bind with the LDL-receptor. As a result of the mentioned metabolic disorder a slightly or markedly elevated plasma cholesterol develops which very probably leads to premature manifestation of atherosclerosis. The disease is transmitted by autosomal dominant inheritance and its incidence in the population is estimated to amount to 1:500, i.e. a similar rate as familial hypercholesterolaemia. In the submitted paper some historical facts are presented which led to the detection of the disease, methods which are used for its detection, and the author presents also results of the first, so still limited clinical investigations.
authors: III. interní klinika 1. LF UK a VFN, Praha.
authors: R
authors: R
authors: Ceska
mesh_terms: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics*; D006801:Humans; D006937:Hypercholesterolemia / Q000097:blood* / Q000235:genetics
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B
vernacular_title: Familiární defekt apolipoproteinu B-100, novĕ objevená porucha lipidového metabolismu.