α1-Antitrypsin deficiency·4: Molecular pathophysiology

Thorax

Volumn 59, Issue 6, 2004, Pages 529-535

  Lomas, D A ^a,b   Parfrey, H ^b  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN; MEMBRANE PROTEIN; SERINE PROTEINASE INHIBITOR; POLYMER;

ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; AMINO ACID SEQUENCE; BETA SHEET; CELL INCLUSION; CONCENTRATION RESPONSE; CRYSTAL STRUCTURE; DISEASE ASSOCIATION; ENZYME STRUCTURE; ENZYME SYNTHESIS; GENE FREQUENCY; GENE OVEREXPRESSION; GENETIC LINKAGE; HUMAN; HYDROPHOBICITY; LIVER DISEASE; LUNG DISEASE; MOLECULAR RECOGNITION; PATHOPHYSIOLOGY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN POLYMERIZATION; PROTEIN VARIANT; REVIEW; TEMPERATURE DEPENDENCE; CHEMISTRY; GENETICS; METABOLISM; MUTATION;

ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; HUMANS; LIVER DISEASES; LUNG DISEASES; MUTATION; POLYMERS;

EID: 2942638034     PISSN: 00406376     EISSN: None     Source Type: Journal    
DOI: 10.1136/thx.2003.006528     Document Type: Review

References (140)

1. Kiernan V. Warm hearts in a cold land. New Scientist 1995;4 March:10.
2. Kuzemko JA. Chopin's illnesses. J R Soc Med 1994;87:769-72.
3. Kubba AK, Young M. The long suffering of Frederic Chopin. Chest 1997;113:210-6.
4. 1-antitrypsin deficiency. Scand J Clin Lab Invest 1963;15:132-40.
5. Beatty K, Bieth J, Travis J. Kinetics of association of serine proteinases with native and oxidized α-1-proteinase inhibitor and α-1-antichymotrypsin. J Biol Chem 1980;255:3931-4.
6. 1-antitrypsin. Nature 1982;298:329-34.
7. 1-antitrypsin deficiency. Acta Med Scand 1965;432(Suppl):1-85.
8. Gross P, Pfitzer EA, Tolker E, et al. Experimental emphysema. Its production with papain in normal and silicotic rats. Arch Environ Health 1965;11:50-8.
9. Senior RM, Tegner H, Kuhn C, et al. The induction of pulmonary emphysema with human leukocyte elastase. Am Rev Respir Dis 1977;116:469-75.
10. Janoff A, Sloan B, Weinbaum G, et al. Experimental emphysema induced with purified human neutrophil elastase: Tissue localization of the instilled protease. Am Rev Respir Dis 1977;115:461-78.
11. Snider GL, Lucey EC, Christensen TG, et al. Emphysema and bronchial secretory cell metaplasia induced in hamsters by human neutrophil products. Am Rev Respir Dis 1984;129:155-60.
12. Lomas DA, Carrell RW. Serpinopathies and the conformational dementias. Nature Reviews Genetics 2002;3:759-68.
13. Lomas DA, Mahadeva R. Alpha-1-antitrypsin polymerisation and the Serpinopathies: pathobiology and prospects for therapy. J Clin Invest 2002;110:1585-90.
14. 1-antitrypsin deficiency: a model for conformational diseases. N Engl J Med 2002;346:45-53.
15. 1-antitrypsin for structure and function of serpins. Biochemistry 1989;28:8951-66.
16. Aronsen KF, Ekelund G, Kindmark CO, et al. Sequential changes of plasma proteins after surgical trauma. Scand J Clin Lab Invest 1972;29(Suppl 124):127-36.
17. 1- antichymotrypsin, corticosteroid-binding globulin, and protein C inhibitor, within a 280 kb region on chromosome 14q31.1. Am J Hum Genet 1993;52:343-53.
18. Koj A, Regoeczi E, Toews CJ, et al. Synthesis of antithrombin III and alpha-1-antitrypsin by the perfused rat liver. Biochim Biophys Acta 1978;539:496-504.
19. 1- antitrypsin. Biochim Biophys Acta 1978;542:496-505.
20. Mornex JF, Chytil-Weir A, Martinet Y, et al. Expression of the alpha-1-antitrypsin gene in mononuclear phagocytes of normal and alpha-1-antitrypsin-deficient individuals. J Clin Invest 1986;77:1952-61.
21. 1- antitrypsin gene is expressed in a human intestinal epithelial cell line. J Biol Chem 1989;264:9485-90.
22. Cichy J, Potempa J, Travis J. Biosynthesis of α1-proteinase inhibitor by human lung-derived epithelial cells. J Biol Chem 1997;272:8250-5.
23. Schultze HE, Heide K, Haupt H. Alpha-1-antitrypsin aus humanserum. Klin Wchschr 1962;40:427-9.
24. Rao NV, Wehner NG, Marshall BC, et al. Characterization of proteinase-3 (PR-3), a neutrophil serine proteinase. Structure and functional properties. J Biol Chem 1991;266:9540-8.
25. Potempa J, Korzus E, Travis J. The serpin superfamily of proteinase inhibitors: structure, function, and regulation. J Biol Chem 1994;269:15957-60.
26. 1-antitrypsin. Nat Struct Biol 1996;3:676-81.
27. 1-antitrypsin at 2.7Å. Structure 1996;4:1181-92.
28. 1- antitrypsin is in the canonical inhibitory conformation. J Mol Biol 1998;275:419-25.
29. 1-antitrypsin reveals targets for rational drug design to prevent conformational disease. Protein Sci 2000;9:1274-81.
30. 1-antitrypsin shows variability of the reactive centre and other loops. J Mol Biol 2001;306:109-19.
31. Johnson D, Travis J. Structural evidence for methionine at the reactive site of human α-1-proteinase inhibitor. J Biol Chem 1978;253:7142-4.
32. Wilczynska M, Fa M, Ohlsson P-I, et al. The inhibition mechanism of serpins. Evidence that the mobile reactive centre loop is cleaved in the native protease-inhibitor complex. J Biol Chem 1995;270:29652-5.
33. Wilczynska M, Fa M, Karolin J, et al. Structural insights into serpin-protease complexes reveal the inhibitory mechanism of serpins. Nat Struc Biol 1997;4:354-7.
34. Stratikos E, Gettins PGW. Major proteinase movement upon stable serpin-proteinase complex formation. Proc Natl Acad Sci USA 1997;4:453-8.
35. 1-antitrypsin inhibitor Pittsburgh. J Biol Chem 1998;273:15582-9.
36. Stratikos E, Gettins PGW. Formation of the covalent serpin-proteinase complex involves translocation of the proteinase by more than 70Å and full insertion of the reactive centre loop into β-sheet A. Proc Natl Acad Sci USA 1999;96:4808-13.
37. Huntington JA, Read RJ, Carrell RW. Structure of a serpin-protease complex shows inhibition by deformation. Nature 2000;407:923-6.
38. 2-antiplasmin, angiotensinogen, and ovalbumin. Biochemistry 1991;30:1723-30.
39. Brantly M, Nukiwa T, Crystal RG. Molecular basis of alpha-1-antitrypsin deficiency. Am J Med 1988;84(Suppl 6A):13-31.
40. 1-antitrypsin. Biochim Biophys Acta 1976;453:257-61.
41. 1-antitrypsin PiZ. FEBS Lett 1976;65:195-7.
42. 1-antitrypsin variant (Pi-ZZ) associated with plasma activity deficiency. Proc Natl Acad Sci USA 1976;73:1324-8.
43. Blanco I, Fernández E, Bustillo EF. Alpha-1-antitrypsin PI phenotypes S and Z in Europe: an analysis of the published surveys. Clin Genet 2001;60:31-41.
44. Sharp HL, Bridges RA, Krivit W, et al. Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognised inherited disorder. J Lab Clin Med 1969;73:934-9.
45. 1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med 1976;294:1316-21.
46. 1- antitrypsin deficient children. Acta Paediatr Scand 1988;77:847-51.
47. 1-antitrypsin deficiency. N Engl J Med 1986;314:736-9.
48. 1-antitrypsin deficiency, PiZ. Acta Med Scand 1978;204:345-51.
49. Piitulainen E, Eriksson S. Decline in FEV1 related to smoking status in individuals with severe alpha1-antitrypsin deficiency. Eur Respir J 1999;13:247-51.
50. 1-antitrypsin: a transgenic mouse model. Science 1988;242:1409-12.
51. 1-antitrypsin causes liver damage in transgenic mice. J Clin Invest 1989;83:1183-90.
52. 1-antitrypsin accumulation in the liver. Nature 1992;357:605-7.
53. 1-antitrypsin. J Biol Chem 1999;274:9548-55.
54. 1-antitrypsin polymers are formed by reactive loop-β-sheet A linkage. J Biol Chem 2000;275:33663-8.
55. 1-antitrypsin. Biochemistry 1993;32:500-8.
56. Janciauskiene S, Dominaitiene R, Sternby NH, et al. Detection of circulating and endothelial cell polymers of Z and wildtype alpha-1-antitrypsin by a monoclonal antibody. J Biol Chem 2002;277:26540-6.
57. 1-antitrypsin variant are degraded within the endoplasmic reticulum by a mechanism sensitive to inhibitors of protein synthesis. J Biol Chem 1992;267:1072-80.
58. 1- antitrypsin deficiency variants. J Biol Chem 1995;270:8393-6.
59. 1-antichymotrypsin indicates two stage insertion of the reactive loop; implications for inhibitory function and conformational disease. Proc Natl Acad Sci USA 2000;97:67-72.
60. 1- antitrypsin causes a protein folding defect. Nat Struc Biol 1995;2:363-7.
61. 1-antitrypsin suppresses the folding defect of the Z-type variant. J Biol Chem 1995;270:8597-601.
62. 1-antitrypsin. J Biol Chem 1997;272:510-6.
63. 1-antitrypsin related cirrhosis. J Biol Chem 2002;277:6771-4.
64. Cabral CM, Choudhury P, Liu Y, et al. Processing by endoplasmic reticulum mannosidases partitions a secretìon-impaired glycoprotein into distinct disposal pathways. J Biol Chem 2000;275:25015-22.
65. Cabral CM, Liu Y, Sifers RN. Dissecting the glycoprotein quality control in the secretory pathway. TIBS 2001;26:619-23.
66. Cabral CM, Liu Y, Moremen KW, et al. Organizational diversity among distinct glycoprotein ER-associated degradation programs. Mol Biol Cell 2002;13:2639-50.
67. 1-antitrypsin Z in the endoplasmic reticulum of hepatoma-derived hepatocytes. J Biol Chem 2001;276:44865-72.
68. 1-antitrypsin Z, in the endoplasmic reticulum requires proteosome activity. J Biol Chem 1996;271:22791-5.
69. 1- antitrypsin associated with profound deficiency. J Clin Invest 1998;101:2693-701.
70. 1- antitrypsin Z in endoplasmic reticulum is associated with an autophagic response. Am J Physiol Gastrointest Liver Physiol 2000;279:G961-74.
71. 1-antitrypsin deficiency: an aggregated protein induces mitochondrial injury. J Clin Invest 2002;110:1579-83.
72. 1-antitrypsin deficiency. Proc Natl Acad Sci USA 1994;91:9014-8.
73. Teckman JH, Perlmutter DH. The endoplasmic reticulum degradation pathway for mutant secretory proteins α1-antitrypsin Z and S is distinct from that for an unassembled membrane protein. J Biol Chem 1996;271:13215-20.
74. 1-AT) Z: a potential pharmacologcial strategy for prevention of liver injury and emphysema. Proc Natl Acad Sci USA 2000;97:1796-801.
75. Green C, Brown G, Dafforn TR, et al. Mutations in the Drosophila serpin necrotic mirror disease-associated mutations of human serpins. Development 2003;130:1473-8.
76. Seyama K, Nukiwa T, Takabe K, et al. Siiyama (serine 53 (TCC) to phenylalanine 53 (TTC)). A new α1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serpin backbone. J Biol Chem 1991;266:12627-32.
77. 1-antitrysin deficiency in Japan. Am Rev Respir Dis 1995;152:2119-26.
78. 1-antitrypsin deficiency variant, Mnichinan. Am J Hum Genet 1990;46:602-12.
79. Sergi C, Consalez GC, Fabbretti G, et al. Immunohistochemical and genetic characterization of the M Cagliari α-1-antitrypsin molecule (M-like α-1-antitrypsin deficiency). Lab Invest 1994;70:130-3.
80. 53ØPhe); further evidence for intracellular loop-sheet polymerisation. J Biol Chem 1993;268:15333-5.
81. 52Phe deleted) forms loop-sheet polymers in vivo: evidence for the C sheet mechanism of polymerisation. J Biol Chem 1995;270:16864-70.
82. 1-antitrypsin. Nat Struct Biol 1996;3:910-1.
83. 1-antitrypsin and liver cirrhosis. J Clin Invest 1999;103:999-1006.
84. 1-antitrypsin deficiency in a 4 year old girl. Helv Paediatr Acta 1975;30:501-7.
85. Campra JL, Craig JR, Peters RL, et al. Cirrhosis associated with partial deficiency of alpha-1-antitrypsin in an adult. Ann Intern Med 1973;78:233-8.
86. 1-antitrypsin deficiency with special reference to non-index cases. Thorax 1994;49:695-8.
87. 1-antitrypsin deficiency. Lancet 1985;i:152-4.
88. 1-antitrypsin deficiency associated with emphysema. N Engl J Med 1987;316:1055-62.
89. 1-antitrypsin as an inhibitor of neutrophil elastase. J Clin Invest 1987;80:1366-74.
90. Guzdek A, Potempa J, Dubin A, et al. Comparative properties of human α-1-proteinase inhibitor glycosylation variants. FEBS Lett 1990;272:125-7.
91. 1-antitrypsin to prevent neutrophil mediated tissue damage. Biochim Biophys Acta 1994;1227:155-60.
92. Gadek JE, Fells GA, Crystal RG. Cigarette smoking induces functional antiprotease deficiency in the lower respiratory tract of humans. Science 1979;206:1315-6.
93. 1-antitrypsin activity in rat lung. Science 1979;206:1313-4.
94. 1- antitrypsin related emphysema. Am J Respir Cell Mol Biol 1998;18:670-4.
95. 1-proteinase inhibitor deficiency or chronic obstructive bronchitis: antielastase function and cell profile. Clin Sci 1987;72:373-81.
96. Hubbard RC, Fells G, Gadek J, et al. Neutrophil accumulation in the lung in alpha 1-antitrypsin deficiency. Spontaneous release of leukotriene B4 by alveolar macrophages. J Clin Invest 1991;88:891-7.
97. 4 and interleukin 8. Thorax 2002;57:709-14.
98. 1- antitrypsin are chemotactic for human neutrophils: a new paradigm for the pathogenesis of emphysema. Am J Respir Cell Mol Biol 2002;26:723-30.
99. 1-proteinase inhibitor and human leukocyte elastase is a neutrophil chemoattractant. J Exp Med 1988;167:1608-15.
100. Senior RM, Griffin GL, Mecham RP. Chemotactic activity of elastin derived peptides. J Clin Invest 1980;66:859-62.
101. Warter J, Storck D, Grosshans E, et al. Syndrome de Weber-Christian associe a un deficit en alpha-1-antitrypsine; enquete familiale. Ann Med Interne (Paris) 1972;123:877-82.
102. 1-antitrypsin administration and liver transplantation. Transplantation 1997;63:480-2.
103. 1- antitrypsin in Puerto Rican children with asthma. Chest 1993;103:812-5.
104. Eden E, Mitchell D, B M, et al. Atopy, asthma, and emphysema in patients with severe alpha-1-antitrypsin deficiency. Am J Respir Crit Care Med 1997;156:68-74.
105. Griffith ME, Lovegrove JU, Gaskin G, et al. C-antineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with the Z allele of alpha-1-antitrypsin, and P-antineutrophil cytoplasmic antibody positivity with the S allele. Nephrol Dial Transplant 1996;11:438-43.
106. 1-antitrypsin PiZ allele carriers and non-carriers with Wegener's granulomatosis. Eur J Clin Invest 1996;26:786-92.
107. 1-antitrypsin deficiency: evaluation of bronchiectasis with CT. Radiology 1996;199:137-41.
108. Seersholm N, Kok-Jensen A. Extrapulmonary manifestations of alpha-1-antitrypsin deficiency. Am J Respir Crit Care Med 2001;163:A343.
109. 1- antitrypsin deficiency in intracranial aneurysms and cervical artery dissection. Lancet 1994;343:452-3.
110. 1-antitrypsin: a guardian of vascular tissue. Mayo Clin Proc 1994;69:1123-4.
111. 1-antitrypsin alleles in patients with bronchiectasis. Chest 2000;117:415-9.
112. Silverman GA, Bird PI, Carrell RW, et al. The serpins are an expanding superfamily of structurally similar but functionally diverse proteins. Evolution, novel functions, mechanism of inhibition and a revised nomenclature. J Biol Chem 2001;276:33293-6.
113. Whisstock JC, Skinner R, Lesk AM. An atlas of serpin conformations. Trends Biochem Sci 1998;23:63-7.
114. 436→Thr) results in nonsubstrate-like behavior and in polymerization of the molecule. J Biol Chem 1993;268:18088-94.
115. Eldering E, Verpy E, Roem D, et al. COOH-terminal substitutions in the serpin C1 inhibitor that cause loop overinsertion and subsequent multimerization. J Biol Chem 1995;270:2579-87.
116. Bruce D, Perry DJ, Borg J-Y, et al. Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen VI (187 Asn→Asp). J Clin Invest 1994;94:2265-74.
117. Lindo VS, Kakkar VV, Learmonth M, et al. Antithrombin-TRI (Ala382 to Thr) causing severe thromboembolic tendency undergoes the S-to-R transition and is associated with a plasma-inactive high-molecular-weight complex of aggregated antithrombin. Br J Haematol 1995;89:589-601.
118. 1-antichymotrypsin allele associated with familial obstructive lung disease. Genomics 1993;17:740-3.
119. 1-antichymotrypsin deficiency in a heterozygote with liver and lung disease. J Hepatol 1993;18:313-21.
120. 1-antichymotrypsin polymerisation? Biochemistry 2002;42:2355-63.
121. Davis RL, Shrimpton AE, Holohan PD, et al. Familial dementia caused by polymerisation of mutant neuroserpin. Nature 1999;401:376-9.
122. Davis RL, Shrimpton AE, Carrell RW, et al. Association between conformational mutations in neuroserpin and onset and severity of dementia. Lancet 2002;359:2242-7.
123. Belorgey D, Crowther DC, Mahadeva R, et al. Mutant neuroserpin (Ser49Pro) that causes the familial dementia FENIB is a poor proteinase inhibitor and readily forms polymers in vitro. J Biol Chem 2002;277:17367-73.
124. 1-antitrypsin by a peptide sequentially similar to β-strand s4A. Eur J Biochem 1990;194:51-6.
125. 1-proteinase inhibitor probed by limited proteolysis. Biochemistry 1992;31:2720-8.
126. Huntington JA, Pannu NS, Hazes B, et al. A 2.6Å structure of a serpin polymer and implications for conformatianal disease. J Mol Biol 1999;293:449-55.
127. Dunstone MA, Dai W, Whisstock JC, et al. Cleaved antitrypsin polymers at atomic resolution. Protein Sci 2000;9:417-20.
128. Skinner R, Chang W-SW, Jin L, et al. Implications for function and therapy of a 2.9Å structure of binary-complexed antithrombin. J Mol Biol 1998;283:9-14.
129. Fitton HL, Pike RN, Carrell RW, et al. Mechanisms of antithrombin polymerisation and heparin activation probed by insertion of synthetic reactive loop peptides. Biol Chem 1997;378:1059-63.
130. Chang W-SW, Wardell MR, Lomas DA, et al. Probing serpin reactive loop conformations by proteolytic cleavage. Biochem J 1996;314:647-53.
131. Zhou A, Stein PE, Huntington JA, et al. Serpin polymerisation is prevented by a hydrogen bond network that is centered on His-334 and stabilized by glycereol. J Biol Chem 2003;278:15116-22.
132. 1- antitrypsin that play structural and functional roles. Protein Sci 2001;10:1446-53.
133. 1-antitrypsin to prevent conformational disease. J Biol Chem 2003;278:33060-6.
134. Chow MKM, Devlin GL, Bottomley SP. Osmolytes as modulators of conformational changes in the serpins. Biol Chem 2001;382:1593-9.
135. 1-AT deficiency. Am J Respir Cell Mol Biol 2001;24:727-32.
136. Rubenstein RC, Egan ME, Zeitlin PL. In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR. J Clin Invest 1997;100:2457-65.
137. Rubenstein RC, Zeitlin PL. A pilot clinical trial of oral sodium 4-phenylbutyrate (Buphenyl) in deltaF508-homozygous cystic fibrosis patients: partial restoration of nasal epithelial CFTR function. Am J Respir Crit Care Med 1998;157:484-90.
138. 1-antitrypsin deficiency, cirrhosis and emphysema. Thorax 1998;53:501-5.
139. 1-antitrypsin. J Biol Chem 1995;270:5282-8.
140. Im H, Woo M-S, Hwang KY, et al. Interactions causing the kinetic trap in serpin protein folding. J Biol Chem 2002;277:46347-54.