[Apolipoprotein A-I mutations and low high density lipoproteinemia].
Mutations in the apo A-I gene which affect apo A-I and HDL cholesterol levels have been described. We characterized two apo A-I deficiencies and 11 apo A-I structural mutations in which two mutants, apo A-I Oita and apo A-I Nichinan showed low HDL cholesterol levels. These data showed that the central and C terminal domains of apo A-I are involved in this function, leading to low HDL cholesterol levels. However, none of the cases showed a distinct relation of the mutant to coronary artery disease. Further biochemical and clinical evaluations of apo A-I mutation will provide substantial help in understanding the structure-function relationships of apo A-I.
Sasaki
J
J
Department of Internal Medicine, School of Medicine, Fukuoka University.
D016632:Apolipoprotein A-I / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics; D008076:Cholesterol, HDL / Q000097:blood*; D003327:Coronary Disease / Q000097:blood; D006801:Humans; D017354:Point Mutation; D013329:Structure-Activity Relationship
D016632:Apolipoprotein A-I; D008076:Cholesterol, HDL