Biomaterial Database

Cells of an internalization-defective familial hypercholesterolemia mutant secrete low density lipoprotein receptors. 1987

Y Miyake, and T Funahashi, and A Yamamoto

Department of Etiology and Pathophysiology, National Cardiovascular Center Research Institute, Osaka.

Familial hypercholesterolemia (FH) is a congenital disorder of plasma low density lipoprotein (LDL) metabolism resulting from the defect or malfunction of LDL receptors on the cell surface. In most cases of FH, LDL binding to the cell surface is disrupted, while in some special cases LDL binding to the receptors occurs normally but the internalization of the bound LDL is inhibited (internalization-defective type). We studied the biosynthesis and transport of the LDL receptor in cultured fibroblasts obtained from one of the internalization-defective mutants by using [35S]methionine labeling and detection with anti-LDL receptor antibody. The mutant cells synthesized LDL receptors with a molecular weight slightly smaller than normal as shown in SDS-polyacrylamide gel electrophoresis. A large portion of the synthesized receptors was secreted into the medium while the other portion was associated with the cells. The apparent molecular weight of the receptors secreted into the medium was about 10 kDa smaller than that of the cell-associated receptors. The cell-associated form was converted into the secreted form following a prolonged incubation of the cells, showing the precursor-product relationship between the cell-associated and the secreted forms.

UI	MeSH Term	Description	Entries
D007158	Immunologic Techniques	Techniques used to demonstrate or measure an immune response, and to identify or measure antigens using antibodies.	Antibody Dissociation,Immunologic Technic,Immunologic Technics,Immunologic Technique,Immunological Technics,Immunological Techniques,Technic, Immunologic,Technics, Immunologic,Technique, Immunologic,Techniques, Immunologic,Antibody Dissociations,Dissociation, Antibody,Dissociations, Antibody,Immunological Technic,Immunological Technique,Technic, Immunological,Technics, Immunological,Technique, Immunological,Techniques, Immunological
D007700	Kinetics	The rate dynamics in chemical or physical systems.
D008297	Male		Males
D008715	Methionine	A sulfur-containing essential L-amino acid that is important in many body functions.	L-Methionine,Liquimeth,Methionine, L-Isomer,Pedameth,L-Isomer Methionine,Methionine, L Isomer
D008970	Molecular Weight	The sum of the weight of all the atoms in a molecule.	Molecular Weights,Weight, Molecular,Weights, Molecular
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D011499	Protein Processing, Post-Translational	Any of various enzymatically catalyzed post-translational modifications of PEPTIDES or PROTEINS in the cell of origin. These modifications include carboxylation; HYDROXYLATION; ACETYLATION; PHOSPHORYLATION; METHYLATION; GLYCOSYLATION; ubiquitination; oxidation; proteolysis; and crosslinking and result in changes in molecular weight and electrophoretic motility.	Amino Acid Modification, Post-Translational,Post-Translational Modification,Post-Translational Protein Modification,Posttranslational Modification,Protein Modification, Post-Translational,Amino Acid Modification, Posttranslational,Post-Translational Amino Acid Modification,Post-Translational Modifications,Post-Translational Protein Processing,Posttranslational Amino Acid Modification,Posttranslational Modifications,Posttranslational Protein Processing,Protein Processing, Post Translational,Protein Processing, Posttranslational,Amino Acid Modification, Post Translational,Modification, Post-Translational,Modification, Post-Translational Protein,Modification, Posttranslational,Modifications, Post-Translational,Modifications, Post-Translational Protein,Modifications, Posttranslational,Post Translational Amino Acid Modification,Post Translational Modification,Post Translational Modifications,Post Translational Protein Modification,Post Translational Protein Processing,Post-Translational Protein Modifications,Processing, Post-Translational Protein,Processing, Posttranslational Protein,Protein Modification, Post Translational,Protein Modifications, Post-Translational
D011973	Receptors, LDL	Receptors on the plasma membrane of nonhepatic cells that specifically bind LDL. The receptors are localized in specialized regions called coated pits. Hypercholesteremia is caused by an allelic genetic defect of three types: 1, receptors do not bind to LDL; 2, there is reduced binding of LDL; and 3, there is normal binding but no internalization of LDL. In consequence, entry of cholesterol esters into the cell is impaired and the intracellular feedback by cholesterol on 3-hydroxy-3-methylglutaryl CoA reductase is lacking.	LDL Receptors,Lipoprotein LDL Receptors,Receptors, Low Density Lipoprotein,LDL Receptor,LDL Receptors, Lipoprotein,Low Density Lipoprotein Receptor,Low Density Lipoprotein Receptors,Receptors, Lipoprotein, LDL,Receptor, LDL,Receptors, Lipoprotein LDL
D002478	Cells, Cultured	Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.	Cultured Cells,Cell, Cultured,Cultured Cell
D005260	Female		Females