Differential detection of PAS-positive inclusions formed by the Z, Siiyama, and Mmalton variants of α1-antitrypsin

Hepatology

Volumn 40, Issue 5, 2004, Pages 1203-1210

  Janciauskiene, Sabina ^a,f   Eriksson, Sten ^a   Callea, Francesco ^b   Mallya, Meera ^c   Zhou, Aiwu ^c   Seyama, Kuniaki ^d   Hata, Satoru ^e   Lomas, David A ^c  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d JUNTENDO UNIVERSITY   (Japan)

^e NAGANO RED CROSS HOSPITAL   (Japan)

^f LUND UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN; GLUTAMIC ACID; LYSINE; MONOCLONAL ANTIBODY; MONOCLONAL ANTIBODY ATZ11; PHENYLALANINE; SERINE; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; GENE DELETION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LIVER CELL; POINT MUTATION; POLYMERIZATION; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN STRUCTURE; STRUCTURE ANALYSIS;

ALPHA 1-ANTITRYPSIN; ANTIBODIES, MONOCLONAL; BLOTTING, WESTERN; EPITOPES; GENE DELETION; GLUTAMINE; HOMOZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; INCLUSION BODIES; LIVER; LYSINE; PERIODIC ACID-SCHIFF REACTION; PHENYLALANINE; POINT MUTATION; POLYMERS; SERINE; STAINING AND LABELING;

EID: 7044272837     PISSN: 02709139     EISSN: None     Source Type: Journal    
DOI: 10.1002/hep.20451     Document Type: Article

References (38)

1. Carrell RW, Lomas DA. Alpha1-antitrypsin deficiency: a model for conformational diseases. New Engl J Med 2002;346:45-53.
2. Elliott PR, Pei XY, Dafforn TR, Lomas DA. Topography of a 2.0 A structure of alpha1-antitrypsin reveals targets for rational drug design to prevent conformational disease. Protein Science 2000;9:1274-1281.
3. Huntington JA, Read RJ, Carrell RW. Structure of a serpin-protease complex shows inhibition by deformation. Nature 2000;407:923-926.
4. Lomas DA, Evans DL, Finch JT, Carrell RW. The mechanism of Z alpha1-antitrypsin accumulation in the liver. Nature 1992;357:605-607.
5. Lomas DA, Mahadeva R. Alpha-1-antitrypsin polymerization and the serpinopathies: pathobiology and prospects for therapy. J Clin Invest 2002;110:1585-1590.
6. Janciauskiene S, Dominaitiene R, Sternby NH, Piitulainen E, Eriksson S. Detection of circulating and endothelial cell polymers of Z and wildtype alpha-1-antitrypsin by a monoclonal antibody. J Biol Chem 2002;277:26540-26546.
7. Lomas DA, Finch JT, Seyama K, Nukiwa T, Carrell RW. alpha1-antitrypsin Siiyama (Ser53→Phe); further evidence for intracellular loop-sheet polymerization. J Biol Chem 1993;268:15333-15335.
8. Lomas DA, Elliott PR, Sidhar SK, Foreman RC, Finch JT, Cox DW, et al. Alphal-antitrypsin Mmalton (52Phe deleted) forms loop-sheet polymers in vivo: evidence for the C sheet mechanism of polymerization. J Biol Chem 1995;270:16864-16870.
9. Sveger T. Liver disease in alpha 1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med 1976;294:1316-1321.
10. Eriksson S, Carlson J, Velez R. Risk of cirrhosis and primary liver cancer in alpha1-antitrypsin deficiency. N Engl J Med 1986;314:736-739.
11. Eriksson S. Studies in alpha1-antitrypsin deficiency. Acta Med Scand 1965;432(Suppl):1-85.
12. Skinner R, Chang WS, Jin L, Pei X, Huntington JA, Abrahams J-P, et al. Implications for function and therapy of a 2.9 A structure of binary-complexed antithrombin. Mol Biol 1998;283:9-14.
13. Huntington JA, Pannu NS, Hazes B, Read R, Lomas DA, Carrell RW. A 2.6 A structure of a serpin polymer and implications for conformational disease. J Mol Biol 1999;293:449-455.
14. Dunstone MA, Dai W, Whisstock JC, Rossjohn J, Pike RN, Feil SC, et al. Cleaved antitrypsin polymers at atomic resolution. Protein Sci 2000;9:417-420.
15. Mahadeva R, Dafforn TR, Carrell RW, Lomas DA. Six-mer peptide selectively anneals to a pathogenic serpin conformation and blocks polymerization: implications for the prevention of Z alpha1-antitrypsin related cirrhosis. J Biol Chem 2002;277:6771-6774.
16. Sivasothy P, Dafforn TR, Gettins PGW, Lomas DA. Pathogenic alpha1-antitrypsin polymers are formed by reactive loop-beta-sheet A linkage. J Biol Chem 2000;275:33663-33668.
17. Schreuder HA, de Boer B, Dijkema R, Mulders J, Theunissen HJM, Grootenhuis PDJ, et al. The intact and cleaved human antithrombin III complex as a model for serpin-proteinase interactions. Nat Struct Biol 1994;1:48-54.
18. Carrell RW, Stein PE, Fermi G, Wardell MR. Biological implications of a 3 A structure of dimeric antithrombin. Structure 1994;2:257-270.
19. Koloczek H, Banbula A, Salvesen GS, Potempa J. Serpin alpha1-proteinase inhibitor probed by intrinsic tryptophan fluorescence spectroscopy. Protein Sci 1996;5:2226-2235.
20. Bottomley SP, Hopkins PC, Whisstock JC. Alpha 1-antitrypsin polymerization can occur by both loop A and C sheet mechanisms. Biochem Biophys Res Commun 1998;251:1-5.
21. 1-antitrypsin: characterization of a novel mechanism of serpin polymerization. J Mol Biol 2002;324:859-870.
22. Sharp AM, Stein PE, Pannu NS, Carrell RW, Berkenpas MB, Ginsburg D, et al. The active conformation of plasminogen activator inhibitor 1, a target for drugs to control fibrinolysis and cell adhesion. Structure 1999;7:111-118.
23. Zhou A, Faint R, Charlton P, Carrell RW, Lomas DA. Polymerization of plasminogen activator inhibitor-1. J Biol Chem 2001;276:9115-9122.
24. Sergi C, Consalez GC, Fabbretti G, Brisigotti M, Faa G, Costa V, et al. Immunohistochemical and genetic characterization of the M Cagliari alpha-1-antitrypsin molecule (M-like alpha-1-antitrypsin deficiency). Lab Invest 1994;70:130-133.
25. Callea F, Brisigotti M, Faa G, Lucini L, Eriksson S. Identification of PiZ gene products in liver tissue by a monoclonal antibody specific for the Z mutant of alpha 1-antitrypsin. J Hepatol 1991;12:372-376.
26. Lomas DA, Evans DL, Stone SR, Chang WS, Carrell RW. Effect of the Z mutation on the physical and inhibitory properties of alpha1-antitrypsin. Biochemistry 1993;32:500-508.
27. Lomas DA, Elliott PR, Chang WS, Wardell MR, Carrell RW. Preparation and characterization of latent alpha1-antitrypsin. J Biol Chem 1995;270:5282-5288.
28. Mast AE, Enghild JJ, Salvesen G. Conformation of the reactive site loop of alpha1-proteinase inhibitor probed by limited proteolysis. Biochemistry 1992;31:2720-2728.
29. Zhou A, Stein PE, Huntington JA, Carrell RW. Serpin polymerization is prevented by a hydrogen bond network that is centered on His-334 and stabilized by glycerol. J Biol Chem 2003;278:15116-15122.
30. Callea F, Fevery J, De Groote J, Desmet VJ. Detection of Pi Z phenotype individuals by alpha-1-antitrypsin (AAT) immunohistochemistry in paraffin-embedded liver tissue specimens. J Hepatol 1986;2:389-401.
31. Brantly M, Nukiwa T, Crystal RG. Molecular basis of alpha-1-antitrypsin deficiency. Am J Med 1988;84(Suppl 6A):13-31.
32. Sharp HL, Bridges RA, Krivit W, Freier EF. Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder. J Lab Clin Med 1969;73:934-939.
33. Seyama K, Nukiwa T, Takabe K, Takabashi H, Miyake K, Kira S. Siiyama (serine 53 (TCC) to phenylalanine 53 (TTC)). A new alpha1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serpin backbone. J Biol Chem 1991;266:12627-12632.
34. Roberts EA, Cox DW, Medline A, Wanless IR. Occurrence of alpha-1-antitrypsin deficiency in 155 patients with alcoholic liver disease. Am J Clin Pathol 1984;82:424-427.
35. Dafforn TR, Mahadeva R, Elliott PR, Sivasothy P, Lomas DA. A kinetic description of the polymerisation of alpha1-antitrypsin. J Biol Chem 1999;274:9548-9555.
36. Wallmark A, Aim R, Eriksson S. Monoclonal antibody specific for the mutant PiZ alpha 1-antitrypsin and its application in an ELISA procedure for identification of PiZ gene carriers. Proc Natl Acad Sci USA 1984;81:5690-5693.
37. Carlson J, Eriksson S. Chronic "cryptogenic" liver disease and malignant hepatoma in intermediate alpha1-antitrypsin deficiency identified by a Pi Z-specific monoclonal antibody. Scand J Gastroenterol 1985;20:835-842.
38. Loebermann H, Tokuoka R, Deisenhofer J, Hubet R. Human alpha1-proteinase inhibitor. Crystal structure analysis of two crystal modifications, molecular model and preliminary analysis of the implications for function. J Mol Biol 1984;177:531-556.