Histidine-rich Glycoprotein (HRG) Tokushima 2: Novel HRG Deficiency, Molecular and Cellular Characterization

Toshio Shigekiyo; Hidemasa Yoshida; Yasuhiko Kanagawa; Koichi Satoh; Sadao Wakabayashi; Toshio Matsumoto; Takehiko Koide

doi:10.1055/s-0037-1614086

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 2000; 84(04): 675-679
DOI: 10.1055/s-0037-1614086

Review Article

Schattauer GmbH

Histidine-rich Glycoprotein (HRG) Tokushima 2: Novel HRG Deficiency, Molecular and Cellular Characterization

Autoren

Toshio Shigekiyo

¹From the First Department of Internal Medicine, School of Medicine, The University of Tokushima, Tokushima
Hidemasa Yoshida

³Department of Life Science, Faculty of Science, Himeji Institute of Technology, Hyogo, Japan
Yasuhiko Kanagawa

¹From the First Department of Internal Medicine, School of Medicine, The University of Tokushima, Tokushima
Koichi Satoh

²Department of Neurological Surgery, School of Medicine, The University of Tokushima, Tokushima
Sadao Wakabayashi

³Department of Life Science, Faculty of Science, Himeji Institute of Technology, Hyogo, Japan
Toshio Matsumoto

¹From the First Department of Internal Medicine, School of Medicine, The University of Tokushima, Tokushima
Takehiko Koide

³Department of Life Science, Faculty of Science, Himeji Institute of Technology, Hyogo, Japan

Abstract

Summary

The proband, a 76-year-old woman, suffered from dural arteriovenous fistula. Her plasma histidine-rich glycoprotein (HRG) level was 50% of the normal level. A low level of plasma HRG was also found in her third daughter. A single nucleotide substitution of T to C was found at nucleotide position 11,438 in exon 6 of the HRG gene from the proband, converting Cys223 to Arg in the second cystatin-like domain. The same mutation was also identified in her third daughter, but not in the other four family members having normal HRG levels or in 50 unrelated healthy Japanese individuals. Expression studies in BHK cells showed that substantial intracellular degradation of the mutant occurred and only about 40% of the recombinant HRG mutant was secreted. These results indicate that congenital HRG deficiency caused by a substitution of Cys223 to Arg is hereditary in this family.

Key words

Congenital histidine-rich glycoprotein deficiency - histidine-rich glycoprotein - thrombosis

Volltext

Referenzen

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