Seminars in Hematology
Volume 41, Issue 1 , Pages 34-40 , January 2004

Genetic defects leading to hereditary thrombotic thrombocytopenic purpura

  • Koichi Kokame

      Affiliations

    • National Cardiovascular Center Research Institute, Osaka, Japan
    • ,
  • Toshiyuki Miyata

      Affiliations

    • Corresponding Author InformationAddress correspondence to Toshiyuki Miyata, PhD, National Cardiovascular Center Research Institute, 5-7-1 Fujishirodai, Suita, Osaka 565-8565, Japan
    • National Cardiovascular Center Research Institute, Osaka, Japan

References 

  1. Moschcowitz E. Hyaline thombrosis of the terminal arterioles and capillaries; a hitherto undescribed disease. Proc NY Pathol Soc. 1924;24:21–24
  2. Kinoshita S, Yoshioka A, Park YD, Ishizashi H, Konno M, Funato M, et al.  Upshaw-Schulman syndrome revisited (A concept of congenital thrombotic thrombocytopenic purpura). Int J Hematol. 2001;74:101–108
  3. Fujimura Y, Titani K. Structure and function of von Willebrand factor. In:  Bloom AL,  Forbes CD,  Thomas DP,  Tuddenham EGD editor. Haemostasis and Thrombosis. New York, NY: Churchill Livingstone; 1994;p. 379–395
  4. Furlan M. Von Willebrand factor (Molecular size and functional activity). Ann Hematol. 1996;72:341–348
  5. Ruggeri ZM. von Willebrand factor. J Clin Invest. 1997;99:559–564
  6. Sadler JE. Biochemistry and genetics of von Willebrand factor. Annu Rev Biochem. 1998;67:395–424
  7. Chung DW, Fujikawa K. Processing of von Willebrand factor by ADAMTS-13. Biochemistry. 2002;41:11065–11070
  8. Fujimura Y, Matsumoto M, Yagi H, Yoshioka A, Matsui T, Titani K. Von Willebrand factor-cleaving protease and Upshaw-Schulman syndrome. Int J Hematol. 2002;75:25–34
  9. George JN, Sadler JE, Lämmle B. Platelets (Thrombotic thrombocytopenic purpura). Hematology (Am Soc Hematol Educ Program). 2002;9:315–334
  10. Zheng X, Majerus EM, Sadler JE. ADAMTS13 and TTP. Curr Opin Hematol. 2002;9:389–394
  11. Tsai HM. Platelet activation and the formation of the platelet plug (Deficiency of ADAMTS13 causes thrombotic thrombocytopenic purpura). Arterioscler Thromb Vasc Biol. 2003;23:388–396
  12. Furlan M, Robles R, Galbusera M, Remuzzi G, Kyrle PA, Brenner B, et al.  von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome. N Engl J Med. 1998;339:1578–1584
  13. Tsai HM, Lian EC. Antibodies to von Willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura. N Engl J Med. 1998;339:1585–1594
  14. Fujikawa K, Suzuki H, McMullen B, Chung D. Purification of human von Willebrand factor-cleaving protease and its identification as a new member of the metalloproteinase family. Blood. 2001;98:1662–1666
  15. Gerritsen HE, Robles R, Lämmle B, Furlan M. Partial amino acid sequence of purified von Willebrand factor-cleaving protease. Blood. 2001;98:1654–1661
  16. Soejima K, Mimura N, Hirashima M, Maeda H, Hamamoto T, Nakagaki T, et al.  A novel human metalloprotease synthesized in the liver and secreted into the blood (Possibly, the von Willebrand factor-cleaving protease?). J Biochem. 2001;130:475–480
  17. Zheng X, Chung D, Takayama TK, Majerus EM, Sadler JE, Fujikawa K. Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura. J Biol Chem. 2001;276:41059–41063
  18. Plaimauer B, Zimmermann K, Volkel D, Antoine G, Kerschbaumer R, Jenab P, et al.  Cloning, expression, and functional characterization of the von Willebrand factor-cleaving protease (ADAMTS13). Blood. 2002;100:3626–3632
  19. Levy GG, Nichols WC, Lian EC, Foroud T, McClintick JN, McGee BM, et al.  Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature. 2001;413:488–494
  20. Cal S, Obaya AJ, Llamazares M, Garabaya C, Quesada V, López-Otı́n C. Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains. Gene. 2002;283:49–62
  21. Dent JA, Berkowitz SD, Ware J, Kasper CK, Ruggeri ZM. Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor. Proc Natl Acad Sci USA. 1990;87:6306–6310
  22. Tsai HM, Sussman II, Nagel RL. Shear stress enhances the proteolysis of von Willebrand factor in normal plasma. Blood. 1994;83:2171–2179
  23. Furlan M, Robles R, Lämmle B. Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. Blood. 1996;87:4223–4234
  24. Tsai HM. Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion. Blood. 1996;87:4235–4244
  25. Zheng X, Nishio K, Majerus EM, Sadler JE. Cleavage of von Willebrand factor requires the spacer domain of the metalloprotease ADAMTS13. J Biol Chem. 2003;278:30136–30141
  26. Soejima K, Matsumoto M, Kokame K, Yagi H, Ishizashi H, Maeda H, et al.  ADAMTS-13 cysteine-rich/spacer domains are functionally essential for von Willebrand factor cleavage. Blood. 2003;102:3232–3237
  27. Kokame K, Matsumoto M, Soejima K, Yagi H, Ishizashi H, Funato M, et al.  Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. Proc Natl Acad Sci USA. 2002;99:11902–11907
  28. Schneppenheim R, Budde U, Oyen F, Angerhaus D, Aumann V, Drewke E, et al.  von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. Blood. 2003;101:1845–1850
  29. Antoine G, Zimmermann K, Plaimauer B, Grillowitzer M, Studt JD, Lämmle B, et al.  ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor-cleaving protease activity by recombinant human ADAMTS13. Br J Haematol. 2003;120:821–824
  30. Savasan S, Lee SK, Ginsburg D, Tsai HM. ADAMTS13 gene mutation in congenital thrombotic thrombocytopenic purpura with previously reported normal VWF cleaving protease activity. Blood. 2003;101:4449–4451
  31. Matsumoto M, Kokame K, Soejima K, Miura M, Hayashi S, Fujii Y, et al: Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome. Blood (in press)
  32. Wagner E, Lykke-Andersen J. mRNA surveillance (the perfect persist). J Cell Sci. 2002;115:3033–3038
  33. Wilkinson MF, Shyu AB. RNA surveillance by nuclear scanning?. Nat Cell Biol. 2002;4:E144–E147
  34. Furlan M, Lämmle B. Aetiology and pathogenesis of thrombotic thrombocytopenic purpura and haemolytic uraemic syndrome (The role of von Willebrand factor-cleaving protease). Best Pract Res Clin Haematol. 2001;14:437–454
  35. Yoo G, Blomback M, Schenck-Gustafsson K, He S. Decreased levels of von Willebrand factor-cleaving protease in coronary heart disease and thrombotic thrombocytopenic purpura (Study of a simplified method for assaying the enzyme activity based on ristocetin-induced platelet aggregation). Br J Haematol. 2003;121:123–129
  36. Xie L, Chesterman CN, Hogg PJ. Control of von Willebrand factor multimer size by thrombospondin-1. J Exp Med. 2001;193:1341–1349
  37. Pimanda JE, Annis DS, Raftery M, Mosher DF, Chesterman CN, Hogg PJ. The von Willebrand factor-reducing activity of thrombospondin-1 is located in the calcium-binding/C-terminal sequence and requires a free thiol at position 974. Blood. 2002;100:2832–2838
  38. Motto D, Levy G, Mcgee B, Tsai H, Ginsburg D. ADAMTS13 mutations identified in familial TTP patients result in loss of VWF-cleaving protease activity. J Thromb Haemost. 2003;1(suppl 1):OC115
  39. Schneppenheim R, Angerhaus D, Mainusch K, Obser T, Oyen F, Budde U. Comparative expression of recombinant wildtype and mutant von Willebrand factor cleaving protease ADAMTS13. J Thromb Haemost. 2003;1(suppl 1):OC117
  40. Veyradier A, Lavergne JM, Obert B, Ribba AS, Fressinaud E, Loirat C, et al.  Identification of seven new candidate mutations of ADAMTS13 gene in four French families related to congenital thrombotic thrombocytopenic purpura. J Thromb Haemost. 2003;1(suppl 1):P0310
  41. Peyvandi F, Lavoretano S, Canciani MT, Mannucci PM. In vitro expression study of four single nucleotide polymorphisms in the ADAMTS13 gene. J Thromb Haemost. 2003;1(suppl 1):P0325
  42. Gao WQ, Wang ZY, Bai X, Ruan C. The frequency of P475S polymorphism in von Willebrand factor-cleaving protease among Chinese population and its relevance to arterial thrombotic disorders. J Thromb Haemost. 2003;1(suppl 1):P0376

☆ Supported in part by grants-in-aid from the Ministry of Health, Labour, and Welfare of Japan, and from the Ministry of Education, Culture, Sports, Science, and Technology of Japan.

PII: S0037-1963(03)00267-1

doi: 10.1053/j.seminhematol.2003.10.002

Seminars in Hematology
Volume 41, Issue 1 , Pages 34-40 , January 2004

Article Tools

* Image Usage & Resolution