Thrombosis Research
Volume 125, Issue 6 , Pages 529-532 , June 2010

Analysis three abnormal Protein S genes in a patient with pulmonary embolism

  • Makoto Ikejiri

      Affiliations

    • Central Laboratory, Mie University Graduate School of Medicine, Tsu, Japan
  • ,
  • Akihiro Tsuji

      Affiliations

    • Department of Cardiology, Mie University Graduate School of Medicine, Tsu, Japan
  • ,
  • Hideo Wada

      Affiliations

    • Department of Molecular and Laboratory Medicine, Mie University Graduate School of Medicine, Tsu, Japan
    • Corresponding Author InformationCorresponding author. Department of Laboratory Medicine, Mie University School of Medicine, 2-174 Edobashi, Tsu-city, Mie-ken 514-8507, Japan. Tel.: +81 59 232 1111; fax: +81 59 231 5204.
  • ,
  • Yuko Sakamoto

      Affiliations

    • Central Laboratory, Mie University Graduate School of Medicine, Tsu, Japan
  • ,
  • Junji Nishioka

      Affiliations

    • Central Laboratory, Mie University Graduate School of Medicine, Tsu, Japan
  • ,
  • Satoshi Ota

      Affiliations

    • Department of Cardiology, Mie University Graduate School of Medicine, Tsu, Japan
  • ,
  • Norikazu Yamada

      Affiliations

    • Department of Cardiology, Mie University Graduate School of Medicine, Tsu, Japan
  • ,
  • Takeshi Matsumoto

      Affiliations

    • Department of Transfusion, Mie University Graduate School of Medicine, Tsu, Japan
  • ,
  • Kaname Nakatani

      Affiliations

    • Department of Molecular and Laboratory Medicine, Mie University Graduate School of Medicine, Tsu, Japan
  • ,
  • Tsutomu Nobori

      Affiliations

    • Department of Molecular and Laboratory Medicine, Mie University Graduate School of Medicine, Tsu, Japan
  • ,
  • Masaki Itoh

      Affiliations

    • Department of Cardiology, Mie University Graduate School of Medicine, Tsu, Japan

Received 28 August 2009 ,Revised 1 December 2009 ,Accepted 17 December 2009.

References 

  1. Dahlbäck B. The protein C anticoagulant system: inherited defects as basis for venous thrombosis. Thromb Res. 1995;77:1–43
  2. Dahlbäck B. Protein S and C4b-binding protein: components involved n the regulation of the protein C anticoagulant system. Thromb Haemost. 1991;66:49–61
  3. Heeb MJ, Mesters RM, Tans G, Rosing J, Griffin JH. Binding of protein S to factor Va associated with inhibition of prothrombinase that is independent of activated protein C. J Biol Chem. 1993;268:2872–2877
  4. Heeb MJ, Rosing J, Bakker HM, Fernandez JA, Tans G, Griffin JH. Protein S binds to and inhibits factor Xa. Proc Natl Acad Sci U S A. 1994;91:2728–2732
  5. Hackeng TM, van't Veer C, Meijers JC, Bouma BN. Human protein S inhibits prothrombinase complex activity on endothelial cells and platelets via direct interactions with factor Va and Xa. J Biol Chem. 1994;269:21051–21058
  6. Makris M, Leach M, Beauchamp NJ, Daly ME, Cooper PC, Hampton KK, et al. Gene analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S. Blood. 2000;95:1935–1944
  7. Beauchamp NJ, Dykes AC, Parikh N, Campbell Tait R, Daly ME. The prevalence of, and molecular defects underlying, inherited protein S deficiency in the general population. Br J Haematol. 2004;125:647–654Br J Haematol. 2001;113:636–641
  8. Sakata T, Okamoto A, Mannami T, Tomoike H, Miyata T. Prevalence of protein S deficiency in the Japanese general population: the Suita Study. J Thromb Haemost. 2004;2:1012–1013
  9. Nomura T, Suehisa E, Kawasaki T, Okada A. Frequency of protein S deficiency in general Japanese population. Thromb Res. 2000;100:367–371
  10. Tsuda H, Hattori S, Tanabe S, Iida H, Nakahara M, Nishioka S, et al. Screening for aetiology of thrombophilia: a high prevalence of protein S abnormality. Ann Clin Biochem. 1999;36:423–432
  11. Hamasaki N, Kanaji T. Clinical role of Protein S Deficiency in Asian population. In: Recent advance in Thrombosis and Hemostasis. Springer; 2008;p. 597–613
  12. Dykes AC, Walker ID, McMahon AD, Islam SI, Tait RC. A study of Protein S antigen levels in 3788 healthy volunteers: influence of age, sex and hormone use, and estimate for prevalence of deficiency state. Br J Haematol. 2001;113:636–641
  13. Dahlbäck B. Protein S and C4b-binding protein: components involved in the regulation of the protein C anticoagulant system. Thromb Haemost. 1991;66:49–61
  14. Dahlbäck B, Stenflo J. High molecular weight complex in human plasma between vitamin K-dependent protein S and complement component C4b-binding protein. Proc Natl Acad Sci U S A. 1981;78:2512–2516
  15. Dahlbäck B, Frohm B, Nelsestuen G. High affinity interaction between C4b-binding protein and vitamin K-dependent protein S in the presence of calcium. Suggestion of a third component in blood regulating the interaction. J Biol Chem. 1990;265:16.082–16.087
  16. Griffin JH, Gruber A, Fernández JA. Reevaluation of total, free and bound protein S and C4b-bindingprotein levels in plasma anticoagulated with citrate or hirudin. Blood. 1992;79:3203–3211
  17. Hillarp A, Dahlbäck B. Novel subunit in C4b-binding protein required for protein S binding. J Biol Chem. 1988;263:12,759–12,764
  18. Härdig Y, García de Frutos P, Dahlbäck B. Expression and characterization of a recombinant C4b-binding protein lacking the beta-chain. Biochem J. 1995;308:795–800
  19. Gandrille S, Borgel D, Sala N, Espinosa-Parrilla Y, Simmonds R, Rezende S, et al. Protein S deficiency: A database of mutation – summary of the first update. Thromb Haemost. 2000;84:918
  20. Zöller B, García de Frutos P, Dahlbäck B. Evaluation of the relation between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating type I and type III deficiencies to be phenotypic variants of the same genetic disease. Blood. 1995;85:3524–3531
  21. Simmonds RE, Zöller B, Ireland H, Thompson E, de Frutos PG, Dahlbäck B, et al. Genetic and phenotypic analysis of a large (122-member) protein S-deficient kindred provides an explanation for the familial coexistence of type I and type III plasma phenotypes. Blood. 1997;89:4364–4370
  22. Rezende SM, Simmonds RE, Lane DA. Coagulation, inflammation, and apoptosis: different roles for protein S and the protein S-C4b protein complex. Blood. 2004;103:1192–1201
  23. Hayashi T, Nishioka J, Shigekiyo T, Saito S, Suzuki K. Protein S Tokushima: abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domain of protein S. Blood. 1994;83:683–690
  24. Suzuki K, Nishioka J. Binding Site for Vitamin K-dependent Protein S on Complement C4b-binding Protein. J Biol Chem. 1988;263:17034–17039
  25. Nishioka J, Suzuki K. Inhibition of Cofactor Activity of Protein S by a Complex of Protein S and C4b-binding Protein. J Biol Chem. 1990;265:9072–9076
  26. Tsuda H, Urata M, Tsuda T, Wakiyama M, Iida H, Nakahara M, et al. Four missense mutations identified in the protein S gene of thrombosis patients with protein S deficiency effect on secretion and anticoagulant activity of protein S. Thromb Res. 2002;105:233–239
  27. Espinosa-Parrilla Y, Yamazaki T, Sala N, Dahlbäck B, de Frutos PG. Protein S secretion differences of missense account for phenotypic heterogeneity. Blood. 2000;95:173–179
  28. Tsuda T, Tsuda H, Yoshimura H, Hamasaki N. Dynamic equilibrium between protein S and C4b binding protein is important for accurate determination of free protein S antigen. Clin Chem Lab Med. 2002;40:563–567
  29. Persson KE, Dahlbäck B, Hillarp A. Diagnosing protein S deficiency: analytical considerations. Clin Lab. 2003;49:103–110
  30. Amiral J, Grosley B, Boyer-Neumann C, Marfaing-Koka A, Peynaud-Debayle E, Wolf M, et al. New direct assay of free protein S antigen using two distinct monoclonal antibodies specific for the free form. Blood Coagul Fibrinolysis. 1994;5:179–186

PII: S0049-3848(10)00099-X

doi: 10.1016/j.thromres.2009.12.025

Thrombosis Research
Volume 125, Issue 6 , Pages 529-532 , June 2010