Arteriosclerosis, Vol 10, 577-581, Copyright © 1990 by American Heart Association

ARTICLES

Familial defective apolipoprotein B-100. Comparison with familial hypercholesterolemia in 18 cases detected in Munich

H Schuster, G Rauh, B Kormann, T Hepp, S Humphries, C Keller, G Wolfram and N Zollner
Medizinische Poliklinik der Universitat, Munchen, F.R.G.

It has recently been suggested that a substitution of glutamine for arginine at residue 3500 of apolipoprotein (apo) B-100 causes familial defective apo B-100 (FDB), an autosomal, dominantly inherited disorder, which leads to increased serum cholesterol levels. From a sample of 243 patients from Munich with type IIa hyperlipoproteinemia (HL), we have identified eight individuals with the apo B-100 arginine(3500)---- glutamine mutation. In a group of 57 subjects with defective low density lipoprotein receptor (LDLR), no mutant apo B alleles were detected. The frequency of FDB in patients with type IIa HL was estimated to be 3%. In the kindreds of three of the probands, 10 additional carriers of the apo B mutation were identified. Clinical and biochemical data reveal a striking similarity between patients with FDB and those with a defect in the LDLR gene. Our data support previous findings that FDB is a serious disorder causing premature atherosclerosis.

This article has been cited by other articles:

				N. Jacobsen, M. Fenger, J. Bentzen, S. L. Rasmussen, M. H. Jakobsen, J. Fenstholt, and J. Skouv Genotyping of the Apolipoprotein B R3500Q Mutation Using Immobilized Locked Nucleic Acid Capture Probes Clin. Chem., April 1, 2002; 48(4): 657 - 660. [Full Text] [PDF]

				B. Raungaard, F. Heath, P. S. Hansen, J. U. Brorholt-Petersen, H. K. Jensen, and O. Fargeman Flow Cytometric Assessment of LDL Ligand Function for Detection of Heterozygous Familial Defective Apolipoprotein B-100 Clin. Chem., February 1, 2000; 46(2): 224 - 233. [Abstract] [Full Text] [PDF]

				C. Aslanidis and G. Schmitz High-Speed Apolipoprotein E Genotyping and Apolipoprotein B3500 Mutation Detection Using Real-Time Fluorescence PCR and Melting Curves Clin. Chem., July 1, 1999; 45(7): 1094 - 1097. [Full Text] [PDF]

				A. R. Miserez and U. Keller Differences in the Phenotypic Characteristics of Subjects With Familial Defective Apolipoprotein B-100 and Familial Hypercholesterolemia Arterioscler Thromb Vasc Biol, October 1, 1995; 15(10): 1719 - 1729. [Abstract] [Full Text]

				E. A.L. Biessen, H. Vietsch, and T. J.C. Van Berkel Cholesterol Derivative of a New Triantennary Cluster Galactoside Lowers Serum Cholesterol Levels and Enhances Secretion of Bile Acids in the Rat Circulation, March 15, 1995; 91(6): 1847 - 1854. [Abstract] [Full Text]

				J. C. Defesche, K. L. Pricker, M. R. Hayden, B. E. van der Ende, and J. J. P. Kastelein Familial Defective Apolipoprotein B-100 Is Clinically Indistinguishable From Familial Hypercholesterolemia Arch Intern Med, October 25, 1993; 153(20): 2349 - 2356. [Abstract] [PDF]

				R. W. Mahley, K. H. Weisgraber, T. L. Innerarity, and S. C. Rall Jr Genetic Defects in Lipoprotein Metabolism: Elevation of Atherogenic Lipoproteins Caused by Impaired Catabolism JAMA, January 2, 1991; 265(1): 78 - 83. [Abstract] [PDF]