Liver histology of an afibrinogenemic patient with the Bβ-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bβ-L353R fibrinogen vs. the ERSD-associated γ-G284R mutant

Journal of Thrombosis and Haemostasis

Volumn 3, Issue 4, 2005, Pages 724-732

  Duga, S ^a   Braidotti, P ^a   Asselta, R ^a   Maggioni, M ^a   Santagostino, E ^a   Pellegrini, C ^a   Coggi, G ^a   Malcovati, M ^a   Tenchini, Maria Luisa ^a,b  

^a UNIVERSITY OF MILAN   (Italy)

^b IRCCS Maggiore Hospital ^*  (Italy)

Author keywords

Congenital afibrinogenemia; Endoplasmic reticulum storage disease; Liver histopathology

Indexed keywords

FIBRINOGEN; MUTANT PROTEIN; ARGININE; BBETA FIBRINOGEN; COMPLEMENTARY DNA; GLYCOSIDASE; LEUCINE; MESSENGER RNA; RNA;

AFIBRINOGENEMIA; ANIMAL CELL; ARTICLE; CASE REPORT; CELL TRANSPORT; ENDOPLASMIC RETICULUM STORAGE DISEASE; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; IMMUNOPRECIPITATION; IN VITRO STUDY; LIVER HISTOLOGY; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN SECRETION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STORAGE DISEASE; TRANSMISSION ELECTRON MICROSCOPY; ADOLESCENT; ANIMAL; CELL STRAIN COS1; CHEMISTRY; ELECTRON MICROSCOPY; ENDOPLASMIC RETICULUM; GENETIC TRANSFECTION; GENETICS; GENOTYPE; IMMUNOHISTOCHEMISTRY; INBORN ERROR OF METABOLISM; LIVER; LIVER DISEASE; MALE; METABOLISM; MUTATION; PATHOLOGY; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS;

ADOLESCENT; ANIMALS; ARGININE; COS CELLS; DNA, COMPLEMENTARY; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ENDOPLASMIC RETICULUM; FIBRINOGEN; GENOTYPE; GLYCOSIDE HYDROLASES; HUMANS; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; LEUCINE; LIVER; LIVER DISEASES; MALE; METABOLISM, INBORN ERRORS; MICROSCOPY, ELECTRON; MUTATION; MUTATION, MISSENSE; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA; RNA, MESSENGER; TRANSFECTION;

EID: 23044507657     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2005.01229.x     Document Type: Article

References (30)

1. Doolittle RF. Fibrinogen and fibrin. Annu Rev Biochem 1984; 53: 195-229.
2. Mosesson MW, Siebenlist KR, Meh DA. The structure and biological features of fibrinogen and fibrin. Ann N Y Acad Sci 2001; 936: 11-30.
3. Spraggon G, Everse SJ, Doolittle RF. Crystal structures of fragment D from human fibrinogen and its crosslinked counterpart from fibrin. Nature 1997; 389: 455-62.
4. UCSC Genome Browser. http://genome.ucsc.edu/.
5. Redman CM, Xia H. Fibrinogen biosynthesis. Assembly, intracellular degradation, and association with lipid synthesis and secretion. Ann N Y Acad Sci 2001; 936: 480-95.
6. Roy S, Sun A, Redman C. In vitro assembly of the component chains of fibrinogen requires endoplasmic reticulum factors. J Biol Chem 1996; 271: 24544-50.
7. 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; 271: 27948-53.
8. Townsend RR, Hilliker E, Li YT, Laine RA, Bell WR, Lee YC. Carbohydrate structure of human fibrinogen. Use of 300-MHz 1H-NMR to characterize glycosidase-treated glycopeptides. J Biol Chem 1982; 257: 9704-10.
9. Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004; 104: 1243-52.
10. Lak M, Keihani M, Elahi F, Peyvandi F, Mannucci PM. Bleeding and thrombosis in 55 patients with inherited afibrinogenaemia. Br J Haematol 1999; 107: 204-6.
11. Mosesson MW. Fibrinogen gamma chain functions. J Thromb Haemost 2003; 1: 231-8.
12. The Fibrinogen Database website: http://www.geht.org/databaseang/ fibrinogen/.
13. Maghzal GJ, Brennan SO, Fellowes AP, Spearing R, George PM. Familial hypofibrinogenaemia associated with heterozygous substitution of a conserved arginine residue; Bbeta255 Arg → His (Fibrinogen Merivale). Biochim Biophys Acta 2003; 1645: 146-51.
14. Brennan SO, Wyatt JM, May S, De Caigney S, George PM. Hypofibrinogenemia due to novel 316 Asp → Tyr substitution in the fibrinogen Bbeta chain. Thromb Haemost 2001; 85: 450-3.
15. Duga S, Asselta R, Santagostino E, Zeinali S, Simonie T, Malcovati M, Mannucci PM, Tenchini ML. Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. Blood 2000; 95: 1336-41.
16. Vu D, Bolton-Maggs PH, Parr JR, Morris MA, de Moerloose P, Neerman-Arbez M. Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. Blood 2003; 102: 4413-15.
17. Spena S, Asselta R, Duga S, Malcovati M, Peyvandi F, Mannucci PM, Tenchini ML. Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene. Biochim Biophys Acta 2003; 1639: 87-94.
18. Brennan SO, Fellowes AP, Faed JM, George PM. Hypofibrinogenemia in an individual with 2 coding (gamma82 A → G and Bbeta235 P → L) and 2 noncoding mutations. Blood 2000; 95: 1709-13.
19. Terasawa F, Okumura N, Kitano K, Hayashida N, Shimosaka M, Okazaki M, Lord ST. Hypofibrinogenemia associated with a heterozygous missense mutation gamma1153 Cys to arg (Matsumoto IV): in vitro expression demonstrates defective secretion of the variant fibrinogen. Blood 1999; 94: 4122-31.
20. Brennan SO, Wyatt J, Medicina D, Callea F, George PM. Fibrinogen brescia: hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a gamma284 Gly → Arg mutation. Am J Pathol 2000; 157: 189-96.
21. Brennan SO, Wyatt JM, Fellowes AP, Dlott JS, Triplett DA, George PM. Gamma371 Thr → Ile substitution in the fibrinogen gammaD domain causes hypofibrinogenaemia. Biochim Biophys Acta 2001; 1550: 183-8.
22. Brennan SO, Maghzal G, Shneider BL, Gordon R, Magid MS, George PM. Novel fibrinogen gamma375 Arg → Trp mutation (fibrinogen aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia. Hepatology 2002; 36: 652-8.
23. Pfeifer U, Ormanns W, Klineg O. Hepatocellular fibrinogen storage in familial hypofibrinogenemia. Virchows Arch Cell Pathol 1981; 36: 247-55.
24. Wehinger H, Klineg O, Alexandrakis E, Schumann J, Jwitt J, Seydewitz HH. Hereditary hypofibrinogenemia with fibrinogen storage in the liver. Eur J Pedriatr 1983; 141: 109-12.
25. Vanstapel MJ, De Wolf-Peeters C, De Vos R, Desmet VJ. Hepatitis B surface antigen (HbsAg) -fibrinogen interaction. Liver 1984; 4: 148-55.
26. Roy SN, Mukhopadhyay G, Redman CM. Regulation of fibrinogen assembly. Transfection of Hep G2 cells with B cDNA specifically enhances synthesis of the three component chains of fibrinogen. J Biol Chem 1990; 265: 6389-93.
27. Roy SN, Procyk R, Kudryk BJ, Redman CM. Assembly and secretion of recombinant human fibrinogen. J Biol Chem 1991; 266: 4758-63.
28. Marchetti A, Pellegrini C, Buttitta F, Falleni M, Romagnoli S, Felicioni L, Barassi F, Salvatore S, Chella A, Angeletti CA, Roncalli M, Coggi G, Bosari S. Prediction of survival in stage 1 lung carcinoma patients by telomerase function evaluation. Laboratory Invest 2002; 82: 729-36.
29. Livak KJ. ABI Prism 7700 Sequence Detection System. User Bulletin 2. Applied Biosystems, 1997.
30. Wu Y, Whitman I, Molmenti E, Moore K, Hippenmeyer P, Perlmutter DH. A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency. Proc Natl Acad Sci USA 1994; 91: 9014-18.