Molecular basis of type III hyperlipoproteinemia in Germany

• Verfasst von: Feussner, Giso [VerfasserIn]
• Verfasst von: Feussner, Vera [VerfasserIn]
• Verfasst von: Hoffmann, Michael M. [VerfasserIn]
• Verfasst von: Lohrmann, Jens Dieter Wolfgang [VerfasserIn]
• Verfasst von: Wieland, Heinrich [VerfasserIn]
• Verfasst von: März, Winfried [VerfasserIn]
• Titel: Molecular basis of type III hyperlipoproteinemia in Germany
• Verf.angabe: Giso Feussner, Vera Feussner, Michael M. Hoffmann, Jens Lohrmann, Heinrich Wieland, Winfried März
• Jahr: 1998
• Umfang: 7 S.
• Fussnoten: Elektronische Reproduktion der Druck-Ausgabe 22. November 1999 ; Gesehen am 30.01.2025
• Titel Quelle: Enthalten in: Human mutation
• Ort Quelle: [Hoboken, NJ] : Wiley, 1992
• Jahr Quelle: 1998
• Band/Heft Quelle: 11(1998), 6, Seite 417-423
• ISSN Quelle: 1098-1004
• DOI: doi:10.1002/(SICI)1098-1004(1998)11:6<417::AID-HUMU1>3.0.CO;2-5
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: apolipoprotein (apo) E
• Sach-SW: atherosclerosis
• Sach-SW: familial dysbetalipoproteinemia (FD)
• Sach-SW: type III hyperlipoproteinemia (HLP)
• K10plus-PPN: 1916026060

Abstract

Type III hyperlipoproteinemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2 (Arg112→ Cys, Arg158→ Cys). This common apo E isoform is defective in its binding to lipoprotein receptors. However, other rare mutations in the apo ϵ gene may also, in part dominantly, predispose to the disease. In order to assess the prevalence of rare apo E variants and mutations in the apo ϵ gene in Germany, we examined apo ϵ genotypes by restriction isotyping (RI) and apo E phenotypes by isoelectric focusing (IEF) in 107 German patients with type III HLP. Concordance between apo ϵ genotype and apo E phenotype was observed in 101 subjects (94.4%). Six individuals (5.6%) had genotypes and phenotypes other than E2/2. One subject was apparently homozygous for apo E2 by IEF, but heterozygous for ϵ3/2 by RI. Sequencing of the apo ϵ gene disclosed a hitherto undescribed point mutation (TGG→ TGA) at the third position of the codon for amino acid 20 (Trp), introducing a premature termination codon. This is the first study demonstrating that in the German population type III HLP is mainly associated with homozygosity for apo E2 (Arg112→ Cys, Arg158 → Cys) and that discrepancies between apo ϵ genotype and apo E phenotype are rare in this genetic condition. Hum Mutat 11:417-423, 1998. © 1998 Wiley-Liss, Inc.