Delayed postprandial retinyl palmitate and squalene removal in a patient heterozygous for apolipoprotein A-IFIN mutation (Leu 159-->Arg) and low HDL cholesterol level without coronary artery disease.
A low HDL cholesterol level is frequently but not consistently associated with inefficient postprandial fat clearance. We studied triglycerides, retinyl palmitate and squalene and apolipoprotein B-48 after a fat loading test in one subject heterozygous for a novel point mutation of apolipoprotein A-I (A-IFIN, Leu 159-->Arg) and low HDL cholesterol level without coronary artery disease, and in 16 healthy controls with the same apolipoprotein E phenotype, 3/3, as the proband. HDL cholesterol and apolipoprotein A-I levels were 0.32 mmol/l and 57 mg/dl in the proband, and 1.29 +/- 0.12 mmol/l (mean +/- S.E.) and 126 +/- 4 mg/dl in the controls. The peak concentration for triglycerides in plasma, chylomicrons and VLDL occurred at 4 h both in the case and controls. However, the peak concentrations for retinyl palmitate and squalene in chylomicrons and VLDL were delayed to 12 h in the proband compared with 4 and 9 h in the controls. The peak of apolipoprotein B-48 occurred at 6 h in the proband and at 4 h in the controls, so that triglycerides, apolipoprotein B-48 and retinyl palmitate and squalene peaked differently. After 24 h, retinyl palmitate, squalene, and apolipoprotein B-48 had returned to the baseline levels. The results show for the first time an impaired postprandial lipoprotein removal in a case heterozygote with moderately low HDL cholesterol due to an apolipoprotein A-1 mutation not associated with coronary artery disease.
Gylling
H
H
Department of Medicine, University of Helsinki, Finland.
Relas
H
H
Miettinen
H E
HE
Radhakrishnan
R
R
Miettinen
T A
TA
D000328:Adult; D016588:Anticarcinogenic Agents / Q000097:blood*; D016632:Apolipoprotein A-I / Q000097:blood / Q000235:genetics*; D053283:Apolipoprotein B-48; D001055:Apolipoproteins B / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood*; D015243:Cholesterol, VLDL / Q000097:blood; D002849:Chromatography, Gas; D002914:Chylomicrons / Q000378:metabolism; D003327:Coronary Disease / Q000097:blood; D004041:Dietary Fats / Q000008:administration & dosage; D004224:Diterpenes; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D017354:Point Mutation; D019518:Postprandial Period; D000084562:Retinyl Esters; D012307:Risk Factors; D013185:Squalene / Q000097:blood*; D014280:Triglycerides / Q000097:blood; D014801:Vitamin A / Q000031:analogs & derivatives* / Q000097:blood
D016588:Anticarcinogenic Agents; D016632:Apolipoprotein A-I; D053283:Apolipoprotein B-48; D001055:Apolipoproteins B; D008076:Cholesterol, HDL; D015243:Cholesterol, VLDL; D002914:Chylomicrons; D004041:Dietary Fats; D004224:Diterpenes; D000084562:Retinyl Esters; D014280:Triglycerides; D014801:Vitamin A; C014794:retinol palmitate; D013185:Squalene