ADAMTS13 P475S polymorphism causes a lowered enzymatic activity and urea lability in vitro

Journal of Thrombosis and Haemostasis

Volumn 6, Issue 10, 2008, Pages 1830-1832

  Akiyama, M ^a   Kokame, Koichi ^a   Miyata, T ^a  

^a NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; PROLINE; RECOMBINANT ENZYME; SERINE; UREA; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

AMINO ACID SUBSTITUTION; CONFORMATION; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; ENZYME POLYMORPHISM; GENE FREQUENCY; GENE MUTATION; HUMAN; IN VITRO STUDY; LETTER; PRIORITY JOURNAL; RACE DIFFERENCE; THROMBOCYTE AGGREGATION; THROMBOSIS; THROMBOTIC THROMBOCYTOPENIC PURPURA;

ADAM PROTEINS; HUMANS; JAPAN; POLYMORPHISM, GENETIC; UREA;

EID: 52449083418     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2008.03109.x     Document Type: Letter

References (16)

1. Sadler JE. Biochemistry and genetics of von Willebrand factor. Annu Rev Biochem 1998; 67: 395-424.
2. Dent JA, Galbusera M, Ruggeri ZM. Heterogeneity of plasma von Willebrand factor multimers resulting from proteolysis of the constituent subunit. J Clin Invest 1991; 88: 774-82.
3. Sadler JE, Moake JL, Miyata T, George JN. Recent advances in thrombotic thrombocytopenic purpura. Hematology Am Soc Hematol Educ Program 2004; 407-23.
4. Kokame K, Miyata T. Genetic defects leading to hereditary thrombotic thrombocytopenic purpura. Semin Hematol 2004; 41: 34-40.
5. Banno F, Miyata T. Biology of an antithrombotic factor - ADAMTS13. In: Tanaka K, Davie EW, eds. Recent Advances in Thrombosis and Hemostasis 2008. Berlin: Springer, 2008: 162-76.
6. Kokame K, Matsumoto M, Soejima K, Yagi H, Ishizashi H, Funato M, Tamai H, Konno M, Kamide K, Kawano Y, Miyata T, Fujimura Y. Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. Proc Natl Acad Sci U S A 2002; 99: 11902-7.
7. Jang MJ, Kim NK, Chong SY, Kim HJ, Lee SJ, Kang MS, Oh D. Frequency of Pro475Ser polymorphism of ADAMTS13 gene and its association with ADAMTS-13 activity in the Korean population. Yonsei Med J 2008; 49: 405-8.
8. Gao W, Dai L, Su J, Wang Z, Ruan C. The frequency of P475S polymorphism in von Willebrand factor-cleaving protease in the Chinese population and its relevance to arterial thrombotic disorders. Thromb Haemost 2004; 91: 1257-8.
9. Bongers TN, De Maat MP, Dippel DW, Uitterlinden AG, Leebeek FW. Absence of Pro475Ser polymorphism in ADAMTS-13 in Caucasians. J Thromb Haemost 2005; 3: 805.
10. Kokame K, Nobe Y, Kokubo Y, Okayama A, Miyata T. FRETS-VWF73, a first fluorogenic substrate for ADAMTS13 assay. Br J Haematol 2005; 129: 93-100.
11. Groot E, Hulstein JJ, Rison CN, de Groot PG, Fijnheer R. FRETS-VWF73: A rapid and predictive tool for thrombotic thrombocytopenic purpura. J Thromb Haemost 2006; 4: 698-9.
12. Kremer Hovinga JA, Mottini M, Lämmle B. Measurement of ADAMTS-13 activity in plasma by the FRETS-VWF73 assay: Comparison with other assay methods. J Thromb Haemost 2006; 4: 1146-8.
13. Mahdian R, Rayes J, Girma JP, Houllier A, Obert B, Meyer D, Veyradier A. Comparison of FRETS-VWF73 to full-length VWF as a substrate for ADAMTS13 activity measurement in human plasma samples. Thromb Haemost 2006; 95: 1049-51.
14. Miyata T, Kokame K, Banno F, Shin Y, Akiyama M. ADAMTS13 assays and ADAMTS13-deficient mice. Curr Opin Hematol 2007; 14: 277-83.
15. Furlan M, Robles R, Solenthaler M, Wassmer M, Sandoz P, Lämmle B. Deficient activity of von Willebrand factor-cleaving protease in chronic relapsing thrombotic thrombocytopenic purpura. Blood 1997; 89: 3097-103.
16. Matsumoto M, Yagi H, Ishizashi H, Wada H, Fujimura Y. The Japanese experience with thrombotic thrombocytopenic purpura-hemolytic uremic syndrome. Semin Hematol 2004; 41: 68-74.