Novel fibrinogen (Bβ401Gly→Val) presents as dys- or hypodysfibrinogenaemia due to alterations in sialic acid content

Thrombosis and Haemostasis

Volumn 106, Issue 3, 2011, Pages 551-553

  Brennan, Stephen O ^a   Roncolato, Fernando ^b  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b ST GEORGE HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRINOGEN; GLYCINE; SIALIC ACID; VALINE;

AGED; AMINO ACID SUBSTITUTION; BLEEDING TENDENCY; CASE REPORT; CELL INCLUSION; CONTROLLED STUDY; DYSFIBRINOGENEMIA; ELECTROSPRAY MASS SPECTROMETRY; FEMALE; GENE MUTATION; HEPATITIS C; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPOFIBRINOGENEMIA; INTERNATIONAL NORMALIZED RATIO; LETTER; NUCLEIC ACID BASE SUBSTITUTION; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTHROMBIN TIME; THROMBIN TIME;

AGED; BLOOD COAGULATION DISORDERS, INHERITED; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; FEMALE; FIBRINOGENS, ABNORMAL; HUMANS; MUTATION; N-ACETYLNEURAMINIC ACID; PEDIGREE; PROTEIN CONFORMATION; THROMBIN;

EID: 80052334679     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH11-05-0287     Document Type: Letter

References (15)

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 βγ and αγ complexes in the assembly of human fibrinogen. J Biol Chem 1996; 271: 27942-27947.
3. Townsend RR, Hilliker E, Li Y-T, et al. Carbohydrate structure of human fibrinogen. J Biol Chem 1982; 257: 9704-9710.
4. 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.
5. Gralnick HR, Givelber H, Abrams E. Dysfibrinogenemia associated with hepatoma. N Engl J Med 1978; 229: 221-226.
6. Brennan SO, Wyatt J, Medicina 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 GVYYQ 346-350) causes hypofibrinogenemia with hepatic storage. J Thromb Haemost 2007; 5: 1999-2005.
9. Brennan SO, Davis RL, Conard K, et al. Novel fibrinogen mutation γ314ThrPro (fibrinogen AI du- Pont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia. Liver Int 2010; 30: 1541-1547.
10. Brennan SO, Davis RL. Substitution (γ335Trp→Arg) in fibrinogen Fremantle causes diminished γ chain expression and increased sialic acid content. Thromb Haemost 2010; 104: 1274-1276.
11. Fellowes AP, Brennan SO, et al. Electrospray ionisation mass spectrometry identification of fibrinogen Banks peninsula (γ280 Tyr→Cys): a new variant with defective polymerisation. Br J Haematol 1998; 101: 24-31.
12. Brennan SO, Fellowes AP, Faed JM, et al. Hypofibrinogenemia in an individual with two coding (γ82 Ala→Gly and Bβ235 Pro→Leu) and two noncoding mutations. Blood 2000; 95 1709-1713.
13. Davis RL, Brennan SO. Fibrinogen Tolaga Bay: A novel γA341V mutation causing hypofibrinogenaemia Thromb Haemost 2007; 98: 1136-1138.
14. Spraggon G, Everse SJ, Doolittle RF. Crystal structures of fragment D from human fibrinogen and its crosslinked counterpart from fibrin. Nature 1997; 389: 455-462.
15. Kruse KB, Dear A, Kaltenbrun ER, et al. Mutant fibrinogen cleared from the ER via ERAD and autophagy: an explanation for liver disease. Am J Pathol 2006; 168: 1299-1308.