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The relationship between serum lipoproteins and red cell membranes in abetalipoproteinemia: deficiency of lecithin:cholesterol acyltransferase.

Abstract The relationship between the serum lipoproteins and cell membranes was studied in blood which was obtained from 5 patients with a hereditary abetalipoproteinemia (acanthocytosis). The cholesterol and phospholipid content of acanthocytes was in the normal range, although cholesterol values tended to be high, and phospholipid values low, and the lecithin:sphingomyelin ratio was reversed. Platelet lipids were normal in abetalipoproteinemia. Acanthocytes maintained their lipid content in normal serum, and the lipid content of normal red cells was unchanged after incubation in abetalipoproteinemic serum. When incubated in serum from patients with liver disease and cholesterol-rich red cells, acanthocytes accrued an amount of cholesterol equal to that accrued by normal red cells. Abetalipoproteinemic serum was less able to accept cholesterol from cholesterol-rich red cells than was normal serum, but its capacity approximated that of normal, high-density lipoproteins. The addition of excess free cholesterol, alone or with lecithin, did not unmask a "non-alpha" lipoprotein in abetalipoproteinemic serum. The activity of the serum cholesterol esterifying enzyme, lecithin:cholesterol acyltransferase, was reduced in abetalipoproteinemia to approximately 40 per cent of normal. This was not due to the presence of enzyme inhibitors or secondary to the low serum level of lecithin, and it was not the result of abnormal lipoprotein substrates. Rather, it appears to have resulted from a decreased enzyme concentration.