A New Type of Ser Substitution for γ Arg-275 in Fibrinogen Kamogawa I Characterized by Impaired Fibrin Assembly

Jun Mimuro; Yoichi Kawata; Kazuki Niwa; Shin-ichi Muramatsu; Seiji Madoiwa; Hiroshi Takano; Teruko Sugo; Yoichi Sakata; Tomoyoshi Sugimoto; Koichiro Nose; Michio Matsuda

doi:10.1055/s-0037-1614603

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 1999; 81(06): 940-944
DOI: 10.1055/s-0037-1614603

Letters to the Editor

Schattauer GmbH

A New Type of Ser Substitution for γ Arg-275 in Fibrinogen Kamogawa I Characterized by Impaired Fibrin Assembly

Jun Mimuro

¹From the Division of Hemostasis and Thrombosis Research, Institute of Hematology, Jichi Medical School, Kawachi-Gun, Tochigi-Ken and the

,

Yoichi Kawata

¹From the Division of Hemostasis and Thrombosis Research, Institute of Hematology, Jichi Medical School, Kawachi-Gun, Tochigi-Ken and the

,

Kazuki Niwa

¹From the Division of Hemostasis and Thrombosis Research, Institute of Hematology, Jichi Medical School, Kawachi-Gun, Tochigi-Ken and the

,

Shin-ichi Muramatsu

¹From the Division of Hemostasis and Thrombosis Research, Institute of Hematology, Jichi Medical School, Kawachi-Gun, Tochigi-Ken and the

,

Seiji Madoiwa

¹From the Division of Hemostasis and Thrombosis Research, Institute of Hematology, Jichi Medical School, Kawachi-Gun, Tochigi-Ken and the

,

Hiroshi Takano

¹From the Division of Hemostasis and Thrombosis Research, Institute of Hematology, Jichi Medical School, Kawachi-Gun, Tochigi-Ken and the

,

Teruko Sugo

¹From the Division of Hemostasis and Thrombosis Research, Institute of Hematology, Jichi Medical School, Kawachi-Gun, Tochigi-Ken and the

,

Yoichi Sakata

¹From the Division of Hemostasis and Thrombosis Research, Institute of Hematology, Jichi Medical School, Kawachi-Gun, Tochigi-Ken and the

,

Tomoyoshi Sugimoto

²Department of Newborn Infant Care Unit, Kameda General Hospital, Kamogawa, Chiba-Ken, Japan

,

Koichiro Nose

²Department of Newborn Infant Care Unit, Kameda General Hospital, Kamogawa, Chiba-Ken, Japan

,

Michio Matsuda

¹From the Division of Hemostasis and Thrombosis Research, Institute of Hematology, Jichi Medical School, Kawachi-Gun, Tochigi-Ken and the

› Institutsangaben

Abstract

Summary

A new type of substitution, Arg to Ser at γ275, has been found in a heterozygous dysfibrinogen derived from a 23-year-old woman with no major bleeding or thrombosis. By sequence analyses of the affected γ-chain and its gene, we found a single amino acid substitution of γ Arg-275 to Ser in an aberrant γ (274-302) residue peptide isolated from lysyl endopeptidase-digests of the patient’s fibrinogen. In agreement with this amino acid substitution, we identified a single nucleotide exchange of A for C at position 5728 in the γ-chain gene creating a codon (AGC) encoding Ser instead of the codon (CGC) encoding Arg at position γ 275. Like two other known types of mutants with a His or Cys substitution at this position, the functional abnormality was characterized by delayed fibrin polymerization, most likely due to impaired abutting of two D domains of adjacent fibrin monomers in the same strand of fibrin protofibrils. The structural derangement that affects the D:D association may not be so severe as compared with those of Cys and His mutants, possessing an additional disulfide-linked Cys molecule and an imidazole ring at the mutation site, respectively.

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Referenzen

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