Thrombotic thrombocytopenic purpura in humans and mice

Arteriosclerosis, Thrombosis, and Vascular Biology

Volumn 27, Issue 9, 2007, Pages 1901-1908

  Desch, Karl C ^a   Motto, David G ^b  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF IOWA   (United States)

Author keywords

ADAMTS 13; Microangiopathy; Mouse models; TTP; VWF

Indexed keywords

HYALIN; METALLOPROTEINASE; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

BLOOD CLOTTING; DISEASE MODEL; ENVIRONMENTAL FACTOR; ENZYME SUBSTRATE; FAMILIAL DISEASE; FEVER; HEREDITY; HUMAN; ISCHEMIA; KIDNEY DISEASE; MENTAL DISEASE; MICROTHROMBUS; MICROVASCULATURE; MUTATION; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; SHORT SURVEY; THROMBOCYTE; THROMBOTIC THROMBOCYTOPENIC PURPURA;

ADAM PROTEINS; ANEMIA, HEMOLYTIC; ANIMALS; DISEASE MODELS, ANIMAL; FEMALE; HUMANS; MALE; METALLOENDOPEPTIDASES; MICE; MICE, KNOCKOUT; PURPURA, THROMBOTIC THROMBOCYTOPENIC; VON WILLEBRAND FACTOR;

EID: 34548148490     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/ATVBAHA.107.145797     Document Type: Short Survey

References (55)

1. Burns ER, Zucker-Franklin D. Pathologic effects of plasma from patients with thrombotic thrombocytopenic purpura on platelets and cultured vascular endothelial cells. Blood. 1982;60:1030-1037.
2. Siddiqui FA, Lian EC. Novel platelet-agglutinating protein from a thrombotic thrombocytopenic purpura plasma. J Clin Invest. 1985;76:1330-1337.
3. Mitra D, Jaffe EA, Weksler B, Hajjar KA, Soderland C, Laurence J. Thrombotic thrombocytopenic purpura and sporadic hemolytic-uremic syndrome plasmas induce apoptosis in restricted lineages of human microvascular endothelial cells. Blood. 1997;89:1224-1234.
4. Tsai HM. Von Willebrand factor, ADAMTS13, and thrombotic thrombocytopenic purpura. J Mol Med. 2002;80:639-647.
5. Wagner DD, Marder VJ. Biosynthesis of von Willebrand protein by human endothelial cells. J Biol Chem. 1983;258:2065-2067.
6. Wagner DD. The Weibel-Palade body: the storage granule for von Willebrand factor and P-selectin. Thromb Haemost. 1993;70:105-110.
7. Tsai HM, Nagel RL, Hatcher VB, Sussman II. Multimeric composition of endothelial cell-derived von Willebrand factor. Blood. 1989;73:2074-2076.
8. Ruggeri ZM, Zimmerman TS. The complex multimeric composition of Factor VIII/von Willebrand Factor. Blood. 1981;57:1140-1143.
9. Arya M, Anvari B, Romo GM, Cruz MA, Dong JF, McIntire LV, Moake JL, Lopez JA. Ultralarge multimers of von Willebrand factor form spontaneous high-strength bonds with the platelet glycoprotein Ib-IX complex: studies using optical tweezers. Blood. 2002;99:3971-3977.
10. Sporn LA, Marder VJ, Wagner DD. von Willebrand factor released from Weibel-Palade bodies binds more avidly to extracellular matrix than that secreted constitutively. Blood. 1987;69:1531-1534.
11. Dong JF, Moake JL, Nolasco L, Bernardo A, Arceneaux W, Shrimpton CN, Schade AJ, McIntire LV, Fujikawa K, Lopez JA. ADAMTS-13 rapidly cleaves newly secreted ultralarge von Willebrand factor multimers on the endothelial surface under flowing conditions. Blood. 2002;100:4033-4039.
12. Moake JL, Rudy CK, Troll JH, Weinstein MJ, Colannino NM, Azocar J, Seder RH, Hong SL, Deykin D. Unusually large plasma factor VIII:von Willebrand factor multimers in chronic relapsing thrombotic thrombocytopenic purpura. N Engl J Med. 1982;307:1432-1435.
13. Levy GG, Nichols WC, Lian EC, Foroud T, McClintick JN, McGee BM, Yang AY, Siemieniak DR, Stark KR, Gruppo R, Sarode R, Shurin SB, Chandrasekaran V, Stabler SP, Sabio H, Bouhassira EE, Upshaw JD Jr, Ginsburg D, Tsai HM. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature. 2001;413:488-494.
14. 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.
15. Gerritsen HE, Robles R, Lammle B, Furlan M. Partial amino acid sequence of purified von Willebrand factor-cleaving protease. Blood. 2001;98:1654-1661.
16. 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.
17. Soejima K, Mimura N, Hirashima M, Maeda H, Hamamoto T, Nakagaki T, Nozaki C. A novel human metalloprotease synthesized in the liver and secreted into the blood: Possibly, the von Willebrand factor-cleaving protease? Journal of Biochemistry. 2001;130:475-480.
18. 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 U S A. 1990;87:6306-6310.
19. 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.
20. Furlan M, Robles R, LÑmmle 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.
21. Nishio K, Anderson PJ, Zheng XL, Sadler JE. Binding of platelet glycoprotein Ibalpha to von Willebrand factor domain A1 stimulates the cleavage of the adjacent domain A2 by ADAMTS13. Proc Natl Acad Sci U S A. 2004;101:10578-10583.
22. Upshaw JD Jr. Congenital deficiency of a factor in normal plasma that reverses microangiopathic hemolysis and thrombocytopenia. N Engl J Med. 1978;298:1350-1352.
23. Tsai H-M, Lian E, C.-Y. Antibodies to von Willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura. N Engl J Med. 1998;339:1585-1594.
24. Furlan M, Robles R, Galbusera M, Remuzzi G, Kyrle PA, Brenner B, Krause M, Scharrer I, Aumann V, Mittler U, Solenthaler M, LÑmmle B. von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome. N Engl J Med. 1998;339:1578-1584.
25. Rock GA. Management of thrombotic thrombocytopenic purpura. Brit J Haematol. 2000;109:496-507.
26. Torok TJ, Holman RC, Chorba TL. Increasing mortality from thrombotic thrombocytopenic purpura in the United States-analysis of national mortality data, 1968-1991. Am J of Hematol. 1995;50:84-90.
27. Rock GA, Shumak KH, Buskard NA, Blanchette VS, Kelton JG, Nair RC, Spasoff RA, Group CAS. Comparison of plasma exchange with plasma infusion in the treatment of thrombotic thrombocytopenic purpura. N Engl J Med. 1991;325:393-397.
28. Moake JL. Thrombotic thrombocytopenic purpura: the systemic clumping "plague". Annu Rev Med. 2002;53:75-88.
29. Shumak KH, Rock GA, Nair RC. Late relapses in patients successfully treated for thrombotic thrombocytopenic purpura. Canadian Apheresis Group. Ann Intern Med. 1995;122:569-572.
30. Tsai HM. The molecular biology of thrombotic microangiopathy. Kidney Int. 2006;70:16-23.
31. Bennett CL, Connors JM, Carwile JM, Moake JL, Bell WR, Tarantolo SR, McCarthy LJ, Sarode R, Hatfield AJ, Feldman MD, Davidson CJ, Tsai HM. Thrombotic thrombocytopenic purpura associated with clopidogrel. N Engl J Med. 2000;342:1773-1777.
32. Levy GG, Motto DG, Ginsburg D. ADAMTS13 turns 3. Blood. 2005; 106:11-17.
33. Matsumoto M, Kokame K, Soejima K, Miura M, Hayashi S, Fujii Y, Iwai A, Ito E, Tsuji Y, Takeda-Shitaka M, Iwadate M, Umeyama H, Yagi H, Ishizashi H, Banno F, Nakagaki T, Miyata T, Fujimura Y. Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome. Blood. 2004;103:1305-1310.
34. Feys HB, Liu F, Dong N, Pareyn I, Vauterin S, Vandeputte N, Noppe W, Ruan C, Deckmyn H, Vanhoorelbeke K. ADAMTS-13 plasma level determination uncovers antigen absence in acquired thrombotic thrombocytopenic purpura and ethnic differences. J Thromb Haemost. 2006;4:955-962.
35. Rieger M, Ferrari S, Kremer Hovinga JA, Konetschny C, Herzog A, Koller L, Weber A, Remuzzi G, Dockal M, Plaimauer B, Scheiflinger F. Relation between ADAMTS13 activity and ADAMTS13 antigen levels in healthy donors and patients with thrombotic microangiopathies (TMA). Thromb Haemost. 2006;95:212-220.
36. Veyradier A, Obert B, Haddad E, Cloarec S, Nivet H, Foulard M, Lesure F, Delattre P, Lakhdari M, Meyer D, Girma JP, Loirat C. Severe deficiency of the specific von Willebrand factor-cleaving protease (ADAMTS 13) activity in a subgroup of children with atypical hemolytic uremic syndrome. J Pediatr. 2003;142:310-317.
37. Furlan M, Lammle 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.
38. Veyradier A, Lavergne JM, Ribba AS, Obert B, Loirat C, Meyer D, Girma JP. Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). J Thromb Haemost. 2004;2:424-429.
39. Bohm M, Betz C, Miesbach W, Krause M, von Auer C, Geiger H, Scharrer I. The course of ADAMTS-13 activity and inhibitor titre in the treatment of thrombotic thrombocytopenic purpura with plasma exchange and vincristine. Br J Haematol. 2005;129:644-652.
40. Noris M, Bucchioni S, Galbusera M, Donadelli R, Bresin E, Castelletti F, Caprioli J, Brioschi S, Scheiflinger F, Remuzzi G. Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement. J Am Soc Nephrol. 2005;16:1177-1183.
41. Soejima K, Matsumoto M, Kokame K, Yagi H, Ishizashi H, Maeda H, Nozaki C, Miyata T, Fujimura Y, Nakagaki T. ADAMTS-13 cysteinerich/spacer domains are functionally essential for von Willebrand factor cleavage. Blood. 2003;102:3232-3237.
42. Klaus C, Plaimauer B, Studt JD, Dorner F, Lammle B, Mannucci PM, Scheiflinger F. Epitope mapping of ADAMTS13 autoantibodies in acquired thrombotic thrombocytopenic purpura. Blood. 2004;103: 4514-4519.
43. Motto DG, Chauhan AK, Zhu G, Homeister J, Lamb CB, Desch KC, Zhang W, Tsai HM, Wagner DD, Ginsburg D. Shigatoxin triggers thrombotic thrombocytopenic purpura in genetically susceptible ADAMTS13-deficient mice. J Clin Invest. 2005;115:2752-2761.
44. Banno F, Kokame K, Okuda T, Honda S, Miyata S, Kato H, Tomiyama Y, Miyata T. Complete deficiency in ADAMTS13 is prothrombotic, but it alone is not sufficient to cause thrombotic thrombocytopenic purpura. Blood. 2006;107:3161-3166.
45. Mohlke KL, Purkayastha AA, Westrick RJ, Smith PL, Petryniak B, Lowe JB, Ginsburg D. Mvwf, a dominant modifier of murine von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase. Cell. 1999;96:111-120.
46. Chauhan AK, Motto DG, Lamb CB, Bergmeier W, Dockal M, Plaimauer B, Scheiflinger F, Ginsburg D, Wagner DD. Systemic antithrombotic effects of ADAMTS13. J Exp Med. 2006;203:767-776.
47. Zhou W, Dong L, Ginsburg D, Bouhassira EE, Tsai HM. Enzymatically active ADAMTS13 variants are not inhibited by anti-ADAMTS13 autoantibodies: a novel therapeutic strategy? J Biol Chem. 2005;280: 39934-39941.
48. Ray PE, Liu XH. Pathogenesis of Shiga toxin-induced hemolytic uremic syndrome. Pediatr Nephrol. 2001;16:823-839.
49. Tarr PI, Gordon CA, Chandler WL. Shiga-toxin-producing Escherichia coli and haemolytic uraemic syndrome. Lancet. 2005;365:1073-1086.
50. Noris M, Remuzzi G. Hemolytic uremic syndrome. J Am Soc Nephrol. 2005;16:1035-1050.
51. Karpman D, Manea M, Vaziri-Sani F, Stahl AL, Kristoffersson AC. Platelet activation in hemolytic uremic syndrome. Semin Thromb Hemost. 2006;32:128-145.
52. Nolasco LH, Turner NA, Bernardo A, Tao Z, Cleary TG, Dong JF, Moake JL. Hemolytic uremic syndrome-associated Shiga toxins promote endothelial-cell secretion and impair ADAMTS13 cleavage of unusually large von Willebrand factor multimers. Blood. 2005;106:4199-4209.
53. Banno F, Kaminaka K, Soejima K, Kokame K, Miyata T. Identification of strain-specific variants of mouse Adamts13 gene encoding von Willebrand factor-cleaving protease. J Biol Chem. 2004;279:30896-30903.
54. Zhou W, Bouhassira EE, Tsai HM. An IAP retrotransposon in the mouse ADAMTS13 gene creates ADAMTS13 variant proteins that are less effective in cleaving von Willebrand factor multimers. Blood. 2007; ePub Apr 10.
55. Tao Z, Peng Y, Nolasco L, Cal S, Lopez-Otin C, Li R, Moake JL, Lopez JA, Dong JF. Recombinant CUB-1 domain polypeptide inhibits the cleavage of ULvWF strings by ADAMTS13 under flow conditions. Blood. 2005;106:4139-4145.