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Journal of Lipid Research, Vol 34, 1957-1967, Copyright © 1993 by Lipid Research, Inc.
Postprandial lipemia in subjects with hypobetalipoproteinemia and a single intestinal allele for apoB-48
M Averna, RL Seip, K Mankowitz and G Schonfeld
Division of Atherosclerosis, Nutrition, and Lipid Research, Washington University School of Medicine, St. Louis, MO 63110.
Hypobetalipoproteinemia in many kindreds is associated with truncated forms
of apoB-100. Mutations of the apoB gene specifying more than 20 different
carboxyl terminal truncations of apoB have been identified ranging in
length from apoB-2 to apoB-89. Truncations longer than apoB- 48 appear to
be secreted only by liver, while truncations shorter than apoB-48 are
secreted by liver as well as intestine. Thus, intestines of subjects
heterozygous for truncations > apoB-48 contain two alleles producing
apoB-48, while intestines of heterozygotes with truncations < apoB-48
contain only one allele producing apoB-48. Our aims were to assess whether
intestinal fat absorption differed from normal in subjects with
apoB-truncation-associated hypobetalipoproteinemia and whether fat
absorption in heterozygotes with apoB < 48 differed from heterozygotes
with apoB > 48. Ten subjects heterozygous for apoB > 48 (apoBs -89,
-75, -54, -52), six heterozygous for apoB < 48 (apoBs -46, - 40, -31)
and a group of 16 controls matched for age, sex, body mass index
characteristics, and eating similar diets were given identical fat meals
containing vitamin A. Plasma triglycerides in whole plasma and retinyl
palmitate in chylomicron and non-chylomicron (remnant) fractions were
analyzed at zero time and over the next 14 hours. Fasting vitamins A and E
also were quantified. Fasting plasma levels of vitamin E were lower in
heterozygotes (536 +/- 198 mg/l for apoB > 48 vs. 372 +/- 155 for apoB
< 48) versus controls (1162 +/- 441), but were not different when
corrected for differences in LDL-C. Plasma vitamin A levels (uncorrected)
were not different. Meal responses were characterized in terms of peak
concentrations and areas under the curves (after subtraction of minimum
points). These indices of fat absorption were comparable in all apoB
phenotype groups suggesting that one allele specifying the intestinal
production of apoB-48 is sufficient for normal fat absorption.

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Copyright © 1993 by the American Society for Biochemistry and Molecular Biology.
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