Identification of an apoC-II variant (apoC-IIBethesda) in a kindred with apoC-II deficiency and type I hyperlipoproteinemia.

Apolipoprotein (apo) C-II deficiency is characterized by elevated plasma triglycerides, chylomicrons, and very low density lipoproteins, as well as reduced levels of low density and high density lipoproteins. A subject with apoC-II deficiency has been identified with an apoC-II plasma level of less than 0.05 mg/dl.

Human preproapolipoprotein C-II. Analysis of major plasma isoforms.

Apolipoprotein C-II plays a major role in lipid metabolism as a cofactor for lipoprotein lipase, the enzyme involved in the hydrolysis of triglyceride-rich lipoproteins. Apo-C-II is initially synthesized as a 101 amino acid protein that undergoes subsequent cotranslational cleavage of a signal peptide. Post-translational processing of apo-C-II has not been previously described.

Lipoprotein abnormalities in primary biliary cirrhosis. Association with hepatic lipase inhibition as well as altered cholesterol esterification.

The nature and etiology of plasma lipoprotein abnormalities in patients with varying stages of primary biliary cirrhosis (PBC) were assessed. Two distinct lipoprotein patterns were observed. In patients with early and intermediate histologic stages of PBC, mild elevations of very low density lipoproteins and low density lipoproteins (LDLs), and marked increases in high density lipoproteins (HDLs) were often noted (group 1).

Two-dimensional electrophoresis of human plasma apolipoproteins.

The two-dimensional electrophoretic method with silver staining we describe better resolves plasma apolipoproteins (apo) than any procedure previously described. It can be used to screen for abnormalities in apoA-I, apoA-II, apoA-IV, apoC-II, apoC-III, apoD, apoE, and apoH. In addition, this is the first presentation of apoD and apoH on two-dimensional gels.