Substitution (γ335Trp→Arg) in fibrinogen Fremantle causes diminished γ chain expression and increased sialic acid content

Thrombosis and Haemostasis

Volumn 104, Issue 6, 2010, Pages 1274-1276

  Brennan, Stephen O ^a   Davis, Ryan L ^a  

^a UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

D DIMER; FIBRINOGEN VARIANT; SIALIC ACID;

ADULT; AMINO ACID SUBSTITUTION; BLEEDING; BLOOD CLOTTING; CASE REPORT; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; INTERNATIONAL NORMALIZED RATIO; LETTER; MOLECULAR MODEL; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTHROMBIN TIME;

ADULT; AMINO ACID SUBSTITUTION; ARGININE; BLOOD COAGULATION; BLOOD COAGULATION DISORDERS, INHERITED; FEMALE; FIBRINOGEN; FIBRINOGENS, ABNORMAL; GENETIC PREDISPOSITION TO DISEASE; HEREDITY; HUMANS; MIDDLE AGED; MUTATION; N-ACETYLNEURAMINIC ACID; PEDIGREE; PHENOTYPE; PROTEIN CONFORMATION; STRUCTURE-ACTIVITY RELATIONSHIP; TRYPTOPHAN;

EID: 78649734135     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH10-04-0252     Document Type: Letter

References (14)

1. Tennent GA, Brennan SO, Stangou AJ, et al. Human plasma fibrinogen is synthesized in the liver. Blood 2007; 109: 1971-1974.
2. Huang S, Cao Z, Chung DW, et al. The role of Aα and Bβ complexes in the assembly of human fibrinogen. J Biol Chem 1996; 271: 27942-7.
3. Hanss M, Biot F. A database for human fibrinogen variants. Ann NY Acad Sci 2001; 936: 89-90. Available at: http://www.geht.org/databaseang/fibrinogen/
4. Gillmore JD, Lachmann HJ, Rowczenio D, et al. Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen Aα-chain amyloidosis. J Am Soc Nephrol 2009; 20: 444-451.
5. Stangou AJ, Banner NR, Hendry BM, et al. Hereditary fibrinogen Aα-chain amyloidosis: phenotypic characterization of a systemic disease and the role of liver transplantation. Blood 2010; 115: 2998-3007.
6. Brennan SO, Wyatt J, Medicina D, et al. Fibrinogen Brescia: hepatic endoplasmic reticulum storage and hypofirbinogenemia becuase of a γ284 Gly→Arg mutation. Am J Pathol 2000; 157: 189-196.
7. Brennan SO, Maghzal G, Shneider BL, et al. Novel fibrinogen γ375 Arg→Trp mutation (fibrinogen Aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia. Hepatology 2002; 36: 652-658.
8. Dib N, Quelin F, Ternisien C, et al. Fibrinogen Angers with a new deletion (γ ΔGVYYQ 346-350) causes hypofibrinogenemia with hepatic storage. J Thromb Haemost 2007; 5: 1999-2005.
9. Furuya KN, Davis RL, Savo AM, et al. Novel fibrinogen mutation γ314Thr→Pro (fibrinogen AI du-Pont) identified causing hepatic fibrinogen storage disease. Hepatology 2009; 50: 756A.
10. Martinez J, MacDonald KA, Palascak JE. The role of sialic acid in the dysfibrinogenemia associated with liver disease: distribution of sialic acid on the constituent chains. Blood 1983; 61: 1196-1202.
11. Brennan SO. Electrospray ionisation analysis of human fibrinogen. Thromb Haemost 1997; 78: 1055-1058.
12. Yee VC, Pratt KP, Cote HC, et al. Crystal structure of a 30 kDa C-terminal fragment from the γ chain of human fibrinogen. Structure 1997; 5: 125-138.
13. Ivaskevicius V, Pötzsch B, Harbrecht U, et al. A case of sporadic hypodysfibrinogenemia. Abstract, 53rd Annual Meeting, (German) Society of Thrombosis and Haemostasis Research, 2009. Available at: http://www.gth-online. org/home/jahrestagung/2009/GTH-2009-Posters-Hemorrhagic-Disorders.pdf
14. Morris TA, Marsh JJ, Chiles PG, et al. High prevalence of dysfibrinogenemia among patients with chronic thromboembolic pulmonary hypertension. Blood 2009; 114: 1929-1936.