Key result
Apolipoprotein B was present and increased after fat feeding in the jejunal mucosa of normal subjects, but was completely absent in patients with abetalipoproteinemia.
Why the study?
Is apolipoprotein B synthesized in the intestinal mucosa of patients with abetalipoproteinemia compared to normal subjects?
Observational (n=7)
Is apolipoprotein B synthesized in the intestinal mucosa of patients with abetalipoproteinemia compared to normal subjects?
The study provides direct evidence that intestinal synthesis of apolipoprotein B is absent in patients with abetalipoproteinemia.
Absent intestinal apoB synthesis marks abetalipoproteinemia; leaves open genetic mechanisms and therapeutic targets in lipid disorders.
During fat absorption, active synthesis of cholesterol, phospholipids, and specific apolipoproteins are required for chylomicron formation and secretion. In the inherited disease abetalipoproteinema, chylomicrons cannot be made in response to fat feeding, and they as well as low and very low density lipoproteins are completely absent from plasma. The genetic defect in the disease is presumed to be an inability to synthesize apolipoprotein B, the apoprotein common to all the above lipoprotein classes, but such a defect has not been directly demonstrated. With peroral intestinal biopsies and immunofluorescence techniques, we have demonstrated the presence and intracellular localization of apolipoprotein B within jejunal epithelial cells of five normal subjects and have shown that its content increases markedly after fat feeding. In two patients with abetalipoproteinemia no apolipoprotein B was seen by immunofluorescence techniques in the jejunal mucosa in the fasting state or after a fatty meal. Intestinal synthesis of apolipoprotein B appears not to occur in abetalipoproteinemia.
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Glickman et al. (1979) conducted an observational in Abetalipoproteinemia (n=7). Abetalipoproteinemia vs. Normal subjects was evaluated on Presence and intracellular localization of apolipoprotein B within jejunal epithelial cells. Apolipoprotein B was present and increased after fat feeding in the jejunal mucosa of normal subjects, but was completely absent in patients with abetalipoproteinemia.
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