Abnormalities in lipoproteins of d < 1.006 g/ml in familial lecithin:cholesterol acyltransferase deficiency.

Studies of different sized lipoproteins of d < 1.006 g/ml from patients with familial lecithin:cholesterol acyltransferase deficiency have yielded new evidence of abnormalities in this lipoprotein class. Lipoproteins of all sizes contain high amounts of unesterified cholesterol, low amounts of total protein, and particularly low amounts of apolipoproteins C-II and C-III. Lipoproteins 60 nm in diameter or larger include particles that show a notched appearance upon electron microscopy, and contain a) a high combined volume of phospholipid, unesterified cholesterol, and protein; b) high amounts of cholesteryl ester and apolipoproteins C-I and E, and c) two major tetramethylurea-insoluble proteins that can be separated by electrophoresis in the presence of sodium dodecylsulfate. In contrast, lipoproteins that are 40 nm in diameter or less appear to contain low amounts of cholesteryl ester, normal amounts of apolipoproteins C-I and E, and a single tetramethylurea-insoluble protein the size of that in control lipoproteins. Since these abnormalities occur in the lipoproteins of four different patients from four different families, they are probably effects of the enzyme deficiency. Most, however, appear to arise indirectly because in vitro experiments published earlier indicate that few are reversed by incubation in the presence of the enzyme and patient high density lipoproteins.