Apolipoprotein E Bethesda. Isolation and partial characterization of a variant of human apolipoprotein E isolated from very low density lipoproteins.
A variant of apolipoprotein E, denoted E Bethesda, has been identified in the plasma of a 72-year-old woman with type III hyperlipoproteinemia. An offspring of the proband also has this variant and type III hyperlipoproteinemia. Apolipoprotein E Bethesda was isolated by preparative isoelectrofocusing followed by preparative SDS-polyacrylamide gel electrophoresis from the very low density lipoproteins of the proband's son. The purity and the identity of the preparation were analyzed by analytical SDS-polyacrylamide gel electrophoresis, two-dimensional gel electrophoresis and by immunochemical analysis. Apolipoprotein E Bethesda migrates in the E 1 position and its electrophoretic mobility is not affected by neuraminidase treatment. The protein is shifted to the E3 position after cysteamine treatment. The amino acid composition revealed the presence of two cysteine residues. These data support the concept that the apolipoprotein E Bethesda allele is derived from a mutation of the E2 or E2* allele.
D000368:Aged; D053329:Apolipoprotein E2; D001053:Apolipoproteins / Q000097:blood*; D001057:Apolipoproteins E; D003543:Cysteamine / Q000494:pharmacology; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006801:Humans; D006952:Hyperlipoproteinemia Type III / Q000097:blood*; D005779:Immunodiffusion; D007525:Isoelectric Focusing; D008079:Lipoproteins, VLDL / Q000097:blood*; D008297:Male; D010641:Phenotype
D053329:Apolipoprotein E2; D001053:Apolipoproteins; D001057:Apolipoproteins E; D008079:Lipoproteins, VLDL; C038969:apolipoprotein E2 (Bethesda); D003543:Cysteamine