Molecular basis of antithrombin deficiency

Thrombosis and Haemostasis

Volumn 105, Issue 4, 2011, Pages 635-646

  Luxembourg, Beate ^a,b   Delev, Daniel ^c   Geisen, Christof ^b   Spannagl, Michael ^d   Krause, Manuela ^e   Miesbach, Wolfgang ^b   Heller, Christine ^f   Bergmann, Frauke ^g   Schmeink, Ursula ^h   Grossmann, Ralf ⁱ   Lindhoff Last, Edelgard ^b   Seifried, Erhard ^a   Oldenburg, Johannes ^c   Pavlova, Anna ^c  

^a University of Ulm   (Germany)

^b UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^c UNIVERSITY HOSPITAL BONN   (Germany)

^d UNIVERSITY OF MUNICH   (Germany)

^e DKD   (Germany)

^f University Hospital   (Germany)

^g MVZ Wagnerstibbe   (Germany)

^h Praxis für Gefäßchirurgie und Phlebologie   (Germany)

ⁱ Gemeinschaftspraxis Laborärzte Schweinfurt   (Germany)

Author keywords

Antithrombin deficiency; DHPLC; Mutation analysis; Thromboembolism

Indexed keywords

ANTITHROMBIN;

AMINO ACID SUBSTITUTION; ANTITHROMBIN DEFICIENCY; ARTICLE; CONFORMATIONAL TRANSITION; FAMILY HISTORY; GENE; GENE DELETION; GENE DUPLICATION; GENE INSERTION; HUMAN; LIQUID CHROMATOGRAPHY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR IMAGING; MOLECULAR PATHOLOGY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SERPINC1 GENE; SPLICING DEFECT; THROMBOEMBOLISM;

ANIMALS; ANTITHROMBIN III; ANTITHROMBIN III DEFICIENCY; BINDING SITES; COHORT STUDIES; COMPUTER SIMULATION; DNA MUTATIONAL ANALYSIS; FAMILY; HEPARIN; HUMANS; MUTATION; PROTEIN BINDING; PROTEIN CONFORMATION; PROTEIN STABILITY; SEQUENCE ALIGNMENT;

EID: 79955424161     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH10-08-0538     Document Type: Article

References (44)

1. Silverman GA, et al. The serpins are an expanding superfamily of structurally similar but functionally diverse proteins. Evolution, mechanism of inhibition, novel functions, and a revised nomenclature. J Biol Chem 2001; 276: 33293-33296.
2. Bock SC, et al. Cloning and expression of the cDNA for human antithrombin III. Nucleic Acids Res 1982; 10: 8113-8125.
3. Huber R, Carrell RW. Implications of the three-dimensional structure of α1-antithripsin for the structure and function of serpins. Biochemistry 1989; 28: 8951-8966.
4. Kurachi K, et al. Inhibition of bovine factor IXa and factor Xab by antithrombin III. Biochemistry 1976; 15: 373-377.
5. Buchanan MR, et al. The relative importance of thrombin inhibition and factor Xa inhibition to the antithrombotic effects of heparin. Blood 1985; 65: 198-201.
6. Björk I, Olson ST. Antithrombin. A bloody important serpin. Adv Exp Med Biol 1997; 425: 17-33.
7. Wright HT, Scarsdale JN. Structural basis for serpin inhibitor activity. Proteins 1995; 22: 210-225.
8. Jin L, et al. The anticoagulant activation of antithrombin by heparin. Proc Natl Acad Sci USA 1997; 94: 14683-14688.
9. Huntington JA, et al. Mechanism of heparin activation of antithrombin: evidence for reactive center loop preinsertion with expulsion upon heparin binding. Biochemistry 1996; 35: 8495-8503.
10. Yang L, et al. Contribution of exosite occupancy by heparin to the regulation of coagulation proteases by antithrombin. Thromb Haemost 2010; 103: 277-283.
11. Van Boven HH, Lane DA. Antithrombin and its inherited deficiency states. Semin Hematol 1997; 34: 188-204.
12. Lijfering WM, et al. Selective testing for thrombophilia in patients with first venous thrombosis. Results from a retrospective family cohort study on absolute thrombotic risk for currently known thrombophilic defects in 2479 relatives. Blood 2009; 113: 5314-5322.
13. Ishiguro K, et al. Complete antithrombin deficiency in mice results in embryonic lethality. J Clin Invest 2000; 106: 873-878.
14. Corral J, et al. Antithrombin Cambridge II (A384S): an underestimated genetic risk factor for venous thrombosis. Blood 2007; 109: 4258-4263.
15. Kuhle S, et al. Homozygous antithrombin deficiency type II (99 Leu to Phe mutation) and childhood thromboembolism. Thromb Haemost 2001; 86: 1007-1011.
16. Rossi E, et al. Report of a novel kindred with antithrombin heparin-binding site variant (47 Arg to His): demand for an automated progressive antithrombin assay to detect molecular variants with low thrombotic risk. Thromb Haemost 2007; 98: 695-697.
17. Tait RC, et al. Influence of demographic factors on antithrombin III activity in a healthy population. Br J Haematol 1993; 84: 476-480.
18. Wells PS, et al. Prevalence of antithrombin deficiency in healthy blood donors: a cross-sectional study. Am J Hematol 1994; 45: 321-324.
19. Perry DJ, Carrell RW. Molecular genetics of human antithrombin deficiency. Hum Mutat 1996; 7: 7-22.
20. Rosendaal FR. Risks factors for venous thrombotic disease. Thromb Haemost 1999; 82: 610-619.
21. Rossi E, et al. The risk of symptomatic pulmonary embolism due to proximal deep venous thrombosis differs in patients with different types of inherited thrombophilia. Thromb Haemost 2008; 99: 1030-1034.
22. Lane DA, et al. Inherited thrombophilia: Part I. Thromb Haemost 1996; 76: 651-662.
23. Finazzi G, et al. Different prevalence of thromboembolism in the subtypes of congenital antithrombin deficiency: review of 404 cases. Thromb Haemost 1987; 58: 1094.
24. Bock SC, et al. Assignment of the human antithrombin III structural gene to chromosome 1q23-25. Cytogenet Cell Genet 1985; 39: 67-69.
25. Olds RJ, et al. Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia. Biochemistry 1993; 32: 4216-4224.
26. Lane DA, et al. Antithrombin mutation database: 2nd (1997) Update. Thromb Haemost 1997; 77: 197-211.
27. Bayton T, Lane D. Antithrombin Mutation Data Base. Departement of Haematology, Imperial College Faculty of Medicine, Charing Cross Hospital Campus, London, UK. 2003. Available at: http://www.med.ic.ac.uk/divisions/7/antithrombin.
28. Beauchamp NJ, et al. Major structural defects in the antithrombin gene in four families with Type I antithrombin deficiency. Thromb Haemost 2000; 83: 715-721.
29. Pavlova A, et al. Detection of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography. Haematologica 2006; 91: 1264-1267.
30. Picard V, et al. Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene. Hum Mutat 2006; 27: 600.
31. Human Gene Mutation Database. Available at: http://www.hgmd.cf.ac.uk/ac/ index.php; accessed July and November 2010.
32. Miller SA, et al. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
33. Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 2003; 31: 3812-3814.
34. Ramensky V, et al. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002; 30: 3894-3900.
35. Carrell RW, Lomas DA. Alpha1-antitrypsin deficiency. A model for conformational diseases. N Engl J Med 2002; 346: 45-53.
36. Langdown J, et al. The critical role of hinge-region expulsion in the induced-fit heparin binding mechanism of antithrombin. J Mol Biol 2009; 386: 1278-1289.
37. Mille B, et al. Role of N- and C-terminal amino acids in antithrombin binding to pentasaccharide. J Biol Chem 1994; 269: 29435-29443.
38. Hultin MB, et al. Antithrombin Oslo: type Ib classification of the first reported antithrombin-deficient family, with a review of hereditary antithrombin variants. Thromb Haemost 1988; 59: 468-473.
39. Meagher JL, et al. Critical role of the linker region between helix D and strand 2A in heparin activation of antithrombin. J Biol Chem 2000; 28; 275: 2698-2704.
40. National Center for Biotechnology Information (NCBI). dbSNP Home Page. Available at: http://www.ncbi.nlm.nih.gov/projects/SNP/. Accessed November 2010.
41. Daly M, et al. Antithrombin Dublin (- 3 Val+Glu): an N-terminal variant which has an aberrant signal peptidase cleavage site. FEBS Lett 1990; 273: 87-90.
42. Dürr C, et al. Genetic studies of antithrombin III with IEF and ASO hybridization. Hum Genet 1992; 90: 457-459.
43. Hernández-Espinosa D, et al. Factors with conformational effects on haemostatic serpins: implications in thrombosis. Thromb Haemost 2007; 98: 557-563.
44. Picard V, et al. Two new antithrombin variants support a role for K114 and R13 in heparin binding. J Thromb Haemost 2003; 1: 386-387.