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Functionally inactive apolipoprotein E 3 in a type III hyperlipoproteinaemic patient
Author(s) -
HAVEKES LOUIS M.,
LEUVEN JAN A. GEVERS,
CORVEN EMILE VAN,
WIT ELLY DE,
EMEIS JEF J.
Publication year - 1984
Publication title -
european journal of clinical investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.164
H-Index - 107
eISSN - 1365-2362
pISSN - 0014-2972
DOI - 10.1111/j.1365-2362.1984.tb00696.x
Subject(s) - apolipoprotein b , phenotype , lipoprotein , phospholipid , receptor , medicine , apolipoprotein e , endocrinology , isoelectric focusing , chemistry , low density lipoprotein , lipoprotein(a) , ldl receptor , vesicle , isoelectric point , cholesterol , microbiology and biotechnology , biochemistry , biology , gene , disease , membrane , enzyme
. Type III hyperlipoproteinaemia (HLP) is, amongst others, characterized by the E 2/2 phenotype as determined by isoelectric focusing of apolipoprotein E. However, one of our clinically symptomatic type III HLP patients showed a E 3/3 phenotype. After complexation with phospholipid vesicles, apo E from this patient was, in contrast with apo E from a type IV HLP patient (E 3/4 phenotype), unable to compete with low density lipoprotein (LDL) for binding to the specific LDL receptors on cultured human fibroblasts. This defect in binding to the LDL receptor was not due to an impaired lipid binding capability. The clinical symptomatic type III hyperlipoproteinaemia of our patient is probably due to a functionally inactive apo E 3 .