Libyan family with hypercholesterolemia and increased high-density lipoprotein cholesterol in plasma.
Genetic deficiencies of cholesteryl ester transport protein (CETP) and hepatic lipase activities have been associated with hyperalpha-lipoproteinemias. Here we present a family of 11 members, of which 9, including the father, mother, 5 sons, and 2 daughters, show a marked increase in high-density lipoprotein (HDL) cholesterol alone with low plasma concentrations of triglycerides. Analyses of lecithin:cholesterol acyltransferase (LCAT) activity, cholesteryl ester transfer between HDL fractions, hepatic lipase (HL) activity, and lipoprotein lipase (LPL) activity in these cases showed that a decrease in the heparin-releasable HL activity was the possible cause of the marked increase of HDL2 fractions observed in nine of them. Such a defect in HL activity could significantly affect HDL metabolism in particular and lipoprotein metabolism in general. Evidently, a marked increase in serum total cholesterol due to abnormal metabolism of HDL cholesterol, separate from known causes of altered low-density lipoprotein cholesterol metabolism, e.g., a clearance or a receptor defect, is not uncommon. The coordinated action of HL, LCAT, LPL, and CETP may be essential for normal metabolism of plasma lipoproteins.
Sheriff
D S
DS
Department of Biochemistry, Arab Medical University, Benghazi, Libya.
el Fakhri
M
M
Ghwarsha
K
K
D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000097:blood; D002648:Child; D002675:Child, Preschool; D053480:Cholesterol Ester Transfer Proteins; D008076:Cholesterol, HDL / Q000097:blood*; D005260:Female; D006023:Glycoproteins; D006801:Humans; D006937:Hypercholesterolemia / Q000097:blood / Q000235:genetics*; D007223:Infant; D007700:Kinetics; D008002:Libya; D008049:Lipase / Q000097:blood; D008071:Lipoprotein Lipase / Q000097:blood; D008297:Male; D002785:Sterol O-Acyltransferase / Q000097:blood; D014280:Triglycerides / Q000097:blood
C506642:CETP protein, human; D002352:Carrier Proteins; D053480:Cholesterol Ester Transfer Proteins; D008076:Cholesterol, HDL; D006023:Glycoproteins; D014280:Triglycerides; D002785:Sterol O-Acyltransferase; D008049:Lipase; D008071:Lipoprotein Lipase