[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.