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Studies on the protein moiety of serum high density lipoprotein from patients with familial lecithin: cholesterol acyltransferase deficiency
Author(s) -
Torsvik Harald
Publication year - 1972
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1972.tb01458.x
Subject(s) - lecithin , lecithin—cholesterol acyltransferase , sterol o acyltransferase , sephadex , high density lipoprotein , size exclusion chromatography , medicine , cholesterol , endocrinology , chemistry , lipoprotein , urea , biochemistry , enzyme , biology
Serum high density lipoproteins (HDL) from three patients with lecithin: cholesterol acyltransferase (LCAT) deficiency have been studied. HDL from the patients is composed of two components, one of high molecular weight (HM‐HDL) and one of relatively low molecular weight (LM‐HDL). The polypeptides of lipid‐free HDL (apoHDL) from normal subjects were indistinguishable from those of apoHM‐HDL from the patients as judged by treatment with 8 M urea and gel filtration on Sephadex G‐200, immunological experiments, disc electrophoresis, and amino acid analysis. ApoLM‐HDL contained mainly the apoA‐I polypeptide with small amounts of apoA‐II, whereas C‐polypeptides were lacking. The results indicate that the presence of apparently “abnormal” HDL particles in serum of the patients is secondary to the lack of LCAT activity.