A novel missense mutation in the FGB g. 3354 T > A (p. Y41N), fibrinogen caracas VIII

Thrombosis and Haemostasis

Volumn 105, Issue 4, 2011, Pages 627-634

  Marchi, Rita ^a   Rojas, Héctor ^a   Meyer, Michael ^b   Castillo, Oscar ^a   de Sáez Ruiz, Arlette ^c   Weisel, John W ^d  

^a INSTITUTO VENEZOLANO DE INVESTIGACIONES CIENTÍFICAS   (Venezuela)

^b UNIVERSITY OF APPLIED SCIENCES JENA   (Germany)

^c Banco Metropolitano de Sangre del Distrito Capital   (Venezuela)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Abnormal fibrinogen; Clots; Confocal microscopy; Mutation; Permeation; Scanning electron microscopy; Viscoelastic properties

Indexed keywords

ASPARAGINE; FIBRIN; FIBRINOGEN CARACASS 8; FIBRINOGEN VARIANT; THROMBIN; TYROSINE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; BETA CHAIN; BLOOD CLOTTING; CELL INTERACTION; CONFOCAL LASER MICROSCOPY; CONTROLLED STUDY; DYSFIBRINOGENEMIA; GRAVIMETRY; HUMAN; HUMAN CELL; MALE; MICROVASCULAR ENDOTHELIAL CELL; MISSENSE MUTATION; POLYMERIZATION; PRIORITY JOURNAL; PROTEIN STRUCTURE; SCANNING ELECTRON MICROSCOPY; THROMBIN TIME; TURBIDITY; VISCOELASTICITY; YOUNG MODULUS;

ADULT; AFIBRINOGENEMIA; ASPARAGINE; CELL LINE; DNA MUTATIONAL ANALYSIS; ENDOTHELIUM, VASCULAR; FIBRIN; FIBRINOGENS, ABNORMAL; HUMANS; MALE; MICROSCOPY, ELECTRON; MUTATION, MISSENSE; PROTEIN BINDING; THROMBIN TIME; TYROSINE;

EID: 79955438012     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH10-03-0179     Document Type: Article

References (40)

1. Mackie IJ, Kitchen S, Machin SJ, et al. Haemostasis and Thrombosis Task Force of the British Committee for Standards in Haematology. Br J Haematol 2003; 121: 396-404.
2. Scheraga HA, Laskowski M Jr. The fibrinogen-fibrin conversion. Adv Protein Chem 1957; 12: 1-19.
3. Blombäck B, Hessel B, Hogg D, et al. A two-step fibrinogen-fibrin transition in blood coagulation. Nature 1978; 275: 501-505.
4. Weisel JW. Fibrinogen and fibrin. Adv Protein Chem 2005; 70: 247-299.
5. Laudano AP, Doolittle RF. Synthetic peptide derivatives that bind to fibrinogen and prevent the polymerization of fibrin monomers. Proc Natl Acad Sci USA 1978; 75: 3085-3089.
6. Laudano AP, Doolittle RF. Influence of calcium ion on the binding of fibrin amino terminal peptides to fibrinogen. Science 1981; 212: 457-459.
7. Siebenlist KR, Mosesson MW. Evidence for cross-linked Aα.γ chain heterodimers in plasma fibrinogen. Biochemistry 1996; 35: 5817-5821.
8. Van Hinsbergh VW, Koolwijk P, Hanemaaijer R. Role of fibrin and plasminogen activators in repair-associated angiogenesis: in vitro studies with human endothelial cells. EXS 1997; 79: 391-411.
9. Laurens N, Koolwijk P, de Maat MP. Fibrin structure and wound healing. J Thromb Haemost 2006; 4: 932-939.
10. Belkin AM, Tsurupa G, Zemskov E, et al. Transglutaminase-mediated oligomerization of the fibrin(ogen) αC domains promotes integrin-dependent cell adhesion and signaling. Blood 2005; 105: 3561-3568.
11. Cheresh DA, Berliner SA, Vicente V, et al. Recognition of distinct adhesive sites on fibrinogen by related integrins on platelets and endothelial cells. Cell 1989; 58: 945-953.
12. Charo IF, Nannizzi L, Smith JW, et al. The vitronectin receptor αvβ3 binds fibronectin and acts in concert with α5β1 in promoting cellular attachment and spreading on fibronectin. J Cell Biol 1990; 111: 2795-2800.
13. Yokoyama K, Zhang XP, Medved L, et al. Specific binding of integrin αvβ3 to fibrinogen γ αnd αE chain C-terminal domains. Biochemistry 1999; 38: 5872-5877.
14. Bach TL, Barsigian C, Yaen CH, et al. Endothelial cell VE-cadherin as a receptor for the beta15-42 sequence of fibrin. J Biol Chem 1998; 273: 30719-30728.
15. Languino LR, Plescia J, Duperray A, et al. Fibrinogen mediates leukocyte adhesion to vascular endothelium through an ICAM-1-dependent pathway. Cell 1993; 73: 1423-1434.
16. de Maat MP, Verschuur M. Fibrinogen heterogeneity: inherited and noninherited. Curr Opin Hematol 2005; 12: 377-383.
17. Hill M, Dolan G. Diagnosis, clinical features and molecular assessment of the dysfibrinogenaemias. Haemophilia 2008; 14: 889-897.
18. Mosseson MW. Hereditary fibrinogen abnormalities. In: Williams Hematology. 7th ed. McGraw-Hill Medical 2006; pp. 1909-1927.
19. Ingram GIC. The determination of plasma fibrinogen by the clot weight method. Biochem J 1952; 51: 583-585.
20. Kierulf P, Jakobsen E. A modified beta-alanine precipitation procedure to prepare fibrinogen free of antithrombin-III and plasminogen. Thromb Res 1973; 3: 145-149.
21. Marchi R, Meyer M, de Bosch N, et al. Biophysical characterization of fibrinogen Caracas I with an Aα-chain truncation at Aα 466 Ser. Identification of the mutation and biophysical characterization of properties of clots from plasma and purified fibrinogen. Blood Coagul Fibrinolysis 2004; 15: 285-293.
22. Blombäck B, Okada M. Fibrin gel structure and clotting time. Thromb Res 1982; 25: 51-70.
23. Langer BG, Weisel JW, Dinauer PA, et al. Deglycosylation of fibrinogen accelerates polymerization and increases lateral aggregation of fibrin fibers. J Biol Chem 1988; 263: 15056-15063.
24. Janmey PA. A torsion pendulum for measurement of the viscoelasticity of biopolymers and its application to actin networks. J Biochem Biophys Methods 1991; 22: 41-53.
25. Herrmann FH, Wulff K, Auerswald G, et al. Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. Haemophilia 2009; 15: 267-280.
26. Bouvier CA, Gruendlinger J. Study of the phenomena of coagulation and fibrinolysis by a simple method of continuous optical registration. Schweiz Med ochenschr 1963; 93: 1451-1455.
27. Pandya BV, Gabriel JL, O'Brien J, et al. Polymerization site in the β chain of fibrin: mapping of the Bβ 1-55 sequence. Biochemistry 1991; 30: 162-168.
28. Bunce LA, Spom LA, Francis CW. Endothelial cell spreading on fibrin requires fibrinopeptide B cleavage and amino acid residues 15-42 of the β chain. J Clin Invest 1992; 89: 842-850.
29. Weisel JW. Which knobs fit into which holes in fibrin polymerization? J Thromb Haemost 2007; 5: 2340-2343.
30. Siebenlist KR, DiOrio JP, Budzynski AZ, et al. The polymerization and thrombinbinding properties of des-(Bβ 1-42)-fibrin. J Biol Chem 1990; 265: 18650-18655.
31. Weisel JW, Nagaswami C. Computer modeling of fibrin polymerization kinetics correlated with electron microscope and turbidity observations: clot structure and assembly are kinetically controlled. Biophys J 1992; 63: 111-128.
32. Ryan EA, Mockros LF, Weisel JW, et al. Structural origins of fibrin clot rheology. Biophys J 1999; 77: 2813-2826.
33. Baradet TC, Haselgrove JC, Weisel J. Three-dimensional reconstruction of fibrin clot networks from stereoscopic intermediate voltage electron microscope images and analysis of branching. Biophys J 1995; 68: 1551-1560.
34. Ferry JD. Structure and rheology of fibrin networks. In: Biological and synthetic polymer networks. O. Kramer ed., Elsevier, Amsterdam 1988; pp. 41-55.
35. Abou-Saleh RH, Connell SD, Harrand R, et al. Nanoscale probing reveals that reduced stiffness of clots from fibrinogen lacking 42 N-terminal Bβ-chain residues is due to the formation of abnormal oligomers. Biophys J 2009; 96: 2415-2427.
36. De Caterina R, Massaro M, Libby P. Endothelial functions and dysfunctions. In: Endothelial dysfunctions and vascular disease. 1st ed. Blackwell Futura 2007; pp. 3-25.
37. Vestweber D, Winderlich M, Cagna G, et al. Cell adhesion dynamics at endothelial junctions: VE-cadherin as a major player. Trends Cell Biol 2008; 19: 8-15.
38. Jerome WG, Handt S, Hantgan RR. Endothelial cells organize fibrin clots into structures that are more resistant to lysis. Microsc Microanal 2005; 11: 268-277.
39. Campbell RA, Overmyer KA, Bagnell CR, et al. Cellular procoagulant activity dictates clot structure and stability as a function of distance from the cell surface. Arterioscler Thromb Vasc Biol 2008; 28: 2247-2254.
40. Campbell RA, Overmyer KA, Selzman CH, et al. Contributions of extravascular and intravascular cells to fibrin network formation, structure, and stability. Blood 2009; 114: 4886-4896.