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Demonstration of functional low-density lipoprotein receptors by protein blotting in fibroblasts from a subject with homozygous receptor-negative familial hypercholesterolemia

Journal Article · · J. Lab. Clin. Med.; (United States)
OSTI ID:5221335
; ; ;

We report the detection of low-density lipoprotein (LDL) receptors by the technique of receptor blotting in fibroblasts from a patient with homozygous familial hypercholesterolemia (FHC) previously classified as ''receptor negative.'' Solubilized receptors were electrophoresed, transferred to nitrocellulose paper, treated with LDL followed by radiolabeled antibody to LDL, and visualized by autoradiography. GM 2000 FHC fibroblasts revealed LDL receptors with an apparent molecular weight of approximately 140,000, the same as in normal cells. LDL receptor activity by blotting in GM 2000 cells was greatly diminished in comparison with normal cells, but was calcium dependent. Receptor activity was also detectable by conventional monolayer binding and degradation assays. Thus, GM 2000 cells have profoundly diminished LDL receptor activity, but retain the genetic capacity to make LDL receptor material of normal molecular weight that is capable of binding LDL. Previous studies have demonstrated the presence of trace amounts of immunoreactive LDL receptor protein in fibroblasts from some receptor-negative FHC homozygotes. These studies are extended by demonstrating the ability of this material to bind LDL.

Research Organization:
Washington Univ. School of Medicine, St. Louis, MO
OSTI ID:
5221335
Journal Information:
J. Lab. Clin. Med.; (United States), Journal Name: J. Lab. Clin. Med.; (United States) Vol. 1; ISSN JLCMA
Country of Publication:
United States
Language:
English

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Related Subjects

550201* -- Biochemistry-- Tracer Techniques
59 BASIC BIOLOGICAL SCIENCES
ANIMAL CELLS
ANTIBODIES
AUTORADIOGRAPHY
CHEMICAL BONDS
CHOLESTEROL
CONNECTIVE TISSUE CELLS
ELECTROPHORESIS
FIBROBLASTS
HYDROXY COMPOUNDS
ISOTOPES
LIPIDS
LIPOPROTEINS
MOLECULAR WEIGHT
ORGANIC COMPOUNDS
PHENOTYPE
PROTEINS
RADIOISOTOPES
RECEPTORS
SOMATIC CELLS
STEROIDS
STEROLS