Dysregulated coagulation associated with hypofibrinogenaemia and plasma hypercoagulability: Implications for identifying coagulopathic mechanisms in humans

Thrombosis and Haemostasis

Volumn 108, Issue 3, 2012, Pages 516-526

  Marchi, Rita ^a,b   Walton, Bethany L ^b   McGary, Colleen S ^b   Lin, Feng Chang ^c   Ma, Alice D ^b   Pawlinski, Rafal ^b   MacKman, Nigel ^b   Campbell, Robert A ^d   Paola, Jorge Di ^e   Wolberg, Alisa S ^b  

^a INSTITUTO VENEZOLANO DE INVESTIGACIONES CIENTÍFICAS   (Venezuela)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^c The University of North Carolina at Chapel Hill   (United States)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF COLORADO   (United States)

Author keywords

Bleeding; Factor VIII; Hypofibrinogenaemia; Thrombin generation; Thrombosis

Indexed keywords

BLOOD CLOTTING FACTOR 8; FIBRINOGEN; THROMBIN;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BLOOD CLOTTING DISORDER; CAROTID ARTERY THROMBOSIS; CASE REPORT; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA SEQUENCE; FEMALE; FIBRINOGEN BETA GENE; FIBRINOGEN METABOLISM; FIBRINOLYSIS; GENE; GENE MUTATION; HUMAN; HYPERCOAGULABILITY; HYPOFIBRINOGENEMIA; MOUSE; NONHUMAN; POLYMERIZATION; PRIORITY JOURNAL; THROMBIN TIME; TWO DIMENSIONAL DIFFERENCE GEL ELECTROPHORESIS; WESTERN BLOTTING;

AFIBRINOGENEMIA; AMINO ACID SUBSTITUTION; ANIMALS; BIOPOLYMERS; BLOOD COAGULATION TESTS; CAROTID ARTERY THROMBOSIS; DISEASE MODELS, ANIMAL; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; FACTOR VIII; FEMALE; FIBRINOGEN; FIBRINOLYSIS; GENE DELETION; HEMORRHAGIC DISORDERS; HETEROZYGOTE; HUMANS; ISCHEMIC ATTACK, TRANSIENT; MICE; MICE, MUTANT STRAINS; MIDDLE AGED; MUTATION, MISSENSE; POINT MUTATION; RETINAL ARTERY OCCLUSION; THROMBIN; THROMBOPHILIA;

EID: 84865812819     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH12-05-0355     Document Type: Article

References (57)

1. Allen GA, Wolberg AS, Oliver JA, et al. Impact of procoagulant concentration on rate, peak and total thrombin generation in a model system. J Thromb Haemost 2004+ADs-2:402-413.
2. Butenas S, van't Veer C, Mann KG. Normal thrombin generation. Blood 1999+ADs- 94:2169-2178.
3. Machlus KR, Colby EA, Wu JR, et al. Effect of tissue factor, thrombomodulin, and elevated clotting factor levels on thrombin generation in the calibrated automated thrombogram. Thromb Haemost 2009+ADs- 102: 936-944.
4. Kyrle PA, Minar E, Hirschl M, et al. High plasma levels of factor VIII and the risk of recurrent venous thromboembolism. N Engl J Med 2000+ADs- 343:457-462.
5. Tracy RP, Arnold AM, Ettinger W, et al. The relationship of fibrinogen and factors VII and VIII to incident cardiovascular disease and death in the elderly: results from the cardiovascular health study. Arterioscler Thromb Vase Biol 1999+ADs- 19: 1776-1783.
6. Kraaijenhagen RA, Anker PS, Koopman MM, et al. High plasma concentration of factor VIIIc is a major risk factor for venous thromboembolism. Thromb Haemost 2000+ADs- 83: 5-9.
7. Bank I, Libourel EJ, Middeldorp S, et al. Elevated levels of FVIILC within families are associated with an increased risk for venous and arterial thrombosis. J Thromb Haemost 2005+ADs- 3: 79-84.
8. Machlus KR, Lin F-C, Wolberg AS. Procoagulant activity induced by vascular injury determines contribution of elevated factor VIII to thrombosis and thrombus stability in mice. Blood 2011+ADs- 118: 390-398.
9. Kant JA, Fornace AJ, Jr., Saxe D, et al. Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion. Proc Natl Acad Sci USA 1985+ADs- 82: 2344-2348.
10. Henschen A, Lottspeich F, Kehl M, et al. Covalent structure of fibrinogen. Ann NY Acad Sci 1983+ADs-408:28-43.
11. Redman CM, Xia H. Fibrinogen biosynthesis. Assembly, intracellular degradation, and association with lipid synthesis and secretion. Ann NY Acad Sci 2001+ADs- 936:480-495.
12. Weisel JW. Fibrinogen and fibrin. Adv Protein Chem 2005+ADs- 70:247-299.
13. Mosesson MW. Update on antithrombin I (fibrin). Thromb Haemost 2007+ADs- 98: 105-108.
14. Niwa K, Yaginuma A, Nakanishi M, et al. Fibrinogen Mitaka II: a hereditary dys-fibrinogen with defective thrombin binding caused by an A alpha Glu-11 to Gly substitution. Blood 1993+ADs- 82: 3658-3663.
15. Sugo T, Nakamikawa C, Yoshida N, et al. End-linked homodimers in fibrinogen Osaka VI with a B beta-chain extension lead to fragile clot structure. Blood 2000+ADs- 96:3779-3785.
16. Bornikova L, Peyvandi F, Allen G, et al. Fibrinogen replacement therapy for congenital fibrinogen deficiency. J Thromb Haemost 2011+ADs- 9: 1687-1704.
17. Carrell N, Gabriel DA, Blatt PM, et al. Hereditary dysfibrinogenemia in a patient with thrombotic disease. Blood 1983+ADs- 62: 439-447.
18. Collet J-P, Soria J, Mirshahi M, et al. Dusart syndrome: a new concept of the relationship between fibrin clot architecture and fibrin clot degradability: hypofibri-nolysis related to an abnormal clot structure. Blood 1993+ADs- 82: 2462-2469.
19. Tarumi T, Martincic D, Thomas A, et al. Familial thrombophilia associated with fibrinogen Paris V: Dusart syndrome. Blood 2000+ADs- 96: 1191-1193.
20. Wada Y, Lord ST. A correlation between thrombotic disease and a specific fibrinogen abnormality (A alpha 554 Arg-+ACY-gt+ADs-Cys) in two unrelated kindred, Dusart and Chapel Hill III. Blood 1994+ADs- 84: 3709-3714.
21. Koopman J, Haverkate F, Briet E, et al. A congenitally abnormal fibrinogen (Vliss-ingen) with a 6-base deletion in the gamma-chain gene, causing defective calcium binding and impaired fibrin polymerization. J Biol Chem 1991+ADs- 266: 13456-13461.
22. Marchi R, Lundberg U, Grimbergen J, et al. Fibrinogen Caracas V, an abnormal fibrinogen with an Aalpha 532 Ser-+ACY-gt+ADs-Cys substitution associated with thrombosis. Thromb Haemost 2000+ADs- 84:263-270.
23. Haverkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. Thromb Haemost 1995+ADs- 73: 151-161.
24. Dargaud Y, Luddington R, Baglin TP. Elimination of contact factor activation improves measurement of platelet-dependent thrombin generation by calibrated automated thrombography at low-concentration tissue factor. J Thromb Haemost 2006+ADs- 4: 1160-1161.
25. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 1977+ADs- 74: 5463-5467.
26. Kazal LA, Amsel S, Miller OP, et al. The preparation and some properties of fibrinogen precipitated from human plasma by glycine. Proc Soc Exp Biol Med 1963+ADs- 113:989-994.
27. Osorio C, Sullivan PM, He DN, et al. Mortalin is regulated by APOE in hippocampus of AD patients and by human APOE in TR mice. Neurobiol Aging 2007+ADs- 28:1853-1862.
28. Pratt CW, Monroe DM. Microplate coagulation assays. Biotechniques 1992+ADs- 13: 430-433.
29. Ploplis VA, Wilberding J, McLennan L, et al. A total fibrinogen deficiency is compatible with the development of pulmonary fibrosis in mice. Am J Pathol 2000+ADs- 157: 703-708.
30. Machlus KR, Cardenas JC, Church FC, et al. Causal relationship between hyper -fibrinogenemia, thrombosis, and resistance to thrombolysis in mice. Blood 2011+ADs- 117:4953-4963.
31. Emeis JJ, Jirouskova M, Muchitsch EM, et al. A guide to murine coagulation factor structure, function, assays, and genetic alterations. J Thromb Haemost 2007+ADs- 5: 670-679.
32. Kawasaki T, Kaida T, Arnout J, et al. A new animal model of thrombophilia confirms that high plasma factor VIII levels are thrombogenic. Thromb Haemost 1999+ADs-81:306-311.
33. Neyman M, Gewirtz J, Poncz M. Analysis of the spatial and temporal characteristics of platelet-delivered factor VIII-based clots. Blood 2008+ADs- 112:1101-1108.
34. Shi Q, Fahs SA, Kuether EL, et al. Targeting FVIII expression to endothelial cells regenerates a releasable pool of FVIII and restores hemostasis in a mouse model of hemophilia A. Blood 2010+ADs- 116: 3049-3057.
35. Moller F, Tranholm M. A ferric chloride induced arterial injury model used as haemostatic effect model. Haemophilia 2010+ADs- 16: e216-222.
36. Baumgartner B, Jaki T, Wolfsegger MJ, et al. Optimization, refinement and reduction of murine in vivo experiments to assess therapeutic approaches for haemophilia A. Lab Anim 2010+ADs- 44:211-217.
37. Swiss Institute of Bioinformatics. ExPASy Proteomics Server. Available at: http://ca.expasy.org/swiss-2dpage?combined+AD0-fibrinogen. Accessed June 2011.
38. de Bosch NB, Mosesson MW, Ruiz-Saez A, et al. Inhibition of thrombin generation in plasma by fibrin formation (antithrombin 1). Thromb Haemost 2002+ADs- 88: 253-258.
39. Asselta R, Duga S, Tenchini ML. The molecular basis of quantitative fibrinogen disorders. J Thromb Haemost 2006+ADs- 4:2115-2129.
40. Vu D, Neerman-Arbez M. Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins. J Thromb Haemost 2007+ADs- 5 (Suppl 1): 125-131.
41. Hanss M, Biot F. A database for human fibrinogen variants. Ann NY Acad Sci 2001+ADs-936:89-90.
42. Doolittle RF, Goldbaum DM, Doolittle LR. Designation of sequences involved in the coiled-coil interdomainal connections in fibrinogen: constructions of an atomic scale model. J Mol Biol 1978+ADs- 120: 311-325.
43. Zhang JZ, Redman CM. Role of interchain disulfide bonds on the assembly and secretion of human fibrinogen. J Biol Chem 1994+ADs- 269: 652-658.
44. Xu W, Chung DW, Davie EW. The assembly of human fibrinogen. The role of the amino-terminal and coiled-coil regions of the three chains in the formation of the alphagamma and betagamma heterodimers and alphabetagamma half-molecules. J Biol Chem 1996+ADs- 271: 27948-27953.
45. Asselta R, Duga S, Spena S, et al. Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia. Blood 2004+ADs- 103:3051-3054.
46. Suh TT, Holmback K, Jensen NJ, et al. Resolution of spontaneous bleeding events but failure of pregnancy in fibrinogen-deficient mice. Genes Develop 1995+ADs- 9: 2020-2033.
47. Homer VM, Brennan SO, George PM. Novel fibrinogen Bbeta gene mutation causing hypofibrinogenaemia. Thromb Haemost 2002+ADs- 88:1066-1067.
48. Homer VM, Brennan SO, Ockelford P, et al. Novel fibrinogen truncation with deletion of Bbeta chain residues 440-461 causes hypofibrinogenaemia. Thromb Haemost 2002+ADs- 88: 427-431.
49. Mimuro J, Hamano A, Tanaka T, et al. Hypofibrinogenemia caused by a nonsense mutation in the fibrinogen Bbeta chain gene. J Thromb Haemost 2003+ADs- 1: 2356-2359.
50. Xu X, Wu J, Zhai Z, et al. A novel fibrinogen Bbeta chain frameshift mutation in a patient with severe congenital hypofibrinogenaemia. Thromb Haemost 2006+ADs- 95:931-935.
51. Brennan SO, Fellowes AP, Faed JM, et al. Hypofibrinogenemia in an individual with 2 coding (gamma82 A-+ACY-gt+ADs-G and Bbeta235 P-+ACY-gt+ADs-L) and 2 noncoding mutations. Blood 2000+ADs- 95: 1709-1713.
52. Wolberg AS, Aleman MM, Leiderman K, et al. Procoagulant activity in hemosta-sis and thrombosis: Virchow's triad revisited. Anesth Analg 2012+ADs- 114: 275-285.
53. Madeira CL, Layman ME, de Vera RE, et al. Extrahepatic factor VIII production in transplant recipient of hemophilia donor liver. Blood 2009+ADs- 113: 5364-5365.
54. Shovlin CL, Angus G, Manning RA, et al. Endothelial cell processing and alternatively spliced transcripts of factor VIII: potential implications for coagulation cascades and pulmonary hypertension. PLoS One 2010+ADs- 5:e9154.
55. Ingram IC. The determination of plasma fibrinogen by the clot-weight method. BiochemJ 1952+ADs- 51: 583-585.
56. Weitz JI, Hudoba M, Massel D, et al. Clot-bound thrombin is protected from inhibition by heparin-antithrombin III but is susceptible to inactivation by anti-thrombin Ill-independent inhibitors. J Clin Invest 1990+ADs- 86: 385-391.
57. Hemker HC, Giesen P, Al Dieri R, et al. Calibrated automated thrombin generation measurement in clotting plasma. Pathophysiol Haemost Thromb 2003+ADs- 33: 4-15.