High density lipoproteins with poor reactivity to cholesteryl ester transfer reaction observed in a homozygote of familial hyperalphalipoproteinemia.
A homozygous patient of familial hyperalphalipoproteinemia was found impaired in cholesteryl ester transfer between high and low density lipoproteins (HDL and LDL) in the plasma (T. Kurasawa et. al. J. Biochem. 98: 1499-1508 (1985)). None of the heterozygotes investigated in his family was shown decreased in the transfer rate in spite of their moderately elevated HDL levels. Plasma d = 1.21 bottom fraction of the patient contained substantial transfer activity with normal HDL, while HDL from the patient showed poor reactivity with the d = 1.21 bottoms of the normal plasma and the patient's plasma. HDL from the patient increased the reactivity to the transfer reaction upon occasion without significant change in its physical and chemical properties.
D000328:Adult; D002352:Carrier Proteins / Q000378:metabolism*; D053480:Cholesterol Ester Transfer Proteins; D008076:Cholesterol, HDL / Q000378:metabolism; D008078:Cholesterol, LDL / Q000378:metabolism; D006023:Glycoproteins; D006801:Humans; D006951:Hyperlipoproteinemias / Q000378:metabolism*; D008297:Male; D010375:Pedigree
C506642:CETP protein, human; D002352:Carrier Proteins; D053480:Cholesterol Ester Transfer Proteins; D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D006023:Glycoproteins