Abnormalities in plasma lipoprotein in familial partial lecithin:cholesterol acyltransferase deficiency.
Abnormalities in plasma lipoproteins from patients with familial partial lecithin:cholesterol acyltransferase deficiency were studied. In these patients the plasma cholesterol ester ratio was about 40% and plasma apolipoprotein B level remained within the normal range. The content of large-sized low-density-lipoproteins (LDL) was low. Apolipoprotein B-100 and B-48 were detected in very-low-density lipoproteins (VLDL) and LDL in patients' plasma. In patients' LDL, apolipoprotein B-48 was primarily present in large-sized particles. Apolipoprotein E and A-I were mainly detected in intermediate-sized LDL. High-density lipoproteins (HDL) were separated into three fractions by gel permeation chromatography. Large-sized HDL particles (150-200 A) including discoidal particles contained apolipoproteins, E, A-IV and A-I. The content of discoidal HDL was low and, on electron micrograph, rouleau-formed particles were rarely seen. Normal-sized HDL (80-100 A) contained apolipoproteins A-I and A-II and small-sized HDL (about 60 A) contained only apolipoprotein A-I. Although several lipoprotein abnormalities were similar to those in classical familial lecithin:cholesterol acyltransferase deficiency, remaining lecithin:cholesterol acyltransferase activity may, however, cause a lack of reduction of apolipoprotein B level, a low level of large-sized LDL and also a low level of discoidal HDL.
D000328:Adult; D001053:Apolipoproteins / Q000097:blood; D002784:Cholesterol / Q000097:blood; D002788:Cholesterol Esters / Q000097:blood; D004041:Dietary Fats; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006801:Humans; D007009:Hypolipoproteinemias; D007863:Lecithin Cholesterol Acyltransferase Deficiency; D008074:Lipoproteins / Q000097:blood*; D008297:Male; D008875:Middle Aged; D008970:Molecular Weight; D010743:Phospholipids / Q000097:blood; D014280:Triglycerides / Q000097:blood
D001053:Apolipoproteins; D002788:Cholesterol Esters; D004041:Dietary Fats; D008074:Lipoproteins; D010743:Phospholipids; D014280:Triglycerides; D002784:Cholesterol