Presence of C1-Inhibitor polymers in a subset of patients suffering from hereditary angioedema

PLoS ONE

Volumn 9, Issue 11, 2014, Pages

  Madsen, Daniel Elenius ^a   Hansen, Søren ^b   Gram, Jørgen ^a   Bygum, Anette ^c   Drouet, Christian ^d   Sidelmann, Johannes Jakobsen ^a  

^a UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^b UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^c ODENSE UNIVERSITY HOSPITAL   (Denmark)

^d UNIV GRENOBLE ALPES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C1S INHIBITOR; MONOCLONAL ANTIBODY; PROTEIN AGGREGATE; SERPING1 PROTEIN, HUMAN;

ANGIONEUROTIC EDEMA; ANTIBODY PRODUCTION; ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; DANISH CITIZEN; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MUTATION; PHENOTYPE; PLASMA; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERIZATION; POLYMEROGENIC MUTATION; PROTEIN BLOOD LEVEL; WESTERN BLOTTING; ANIMAL; BAGG ALBINO MOUSE; BLOOD; CASE CONTROL STUDY; CHEMICAL STRUCTURE; FEMALE; GENETICS; METABOLISM;

ANGIOEDEMAS, HEREDITARY; ANIMALS; CASE-CONTROL STUDIES; COMPLEMENT C1 INACTIVATOR PROTEINS; FEMALE; HUMANS; MICE, INBRED BALB C; MODELS, MOLECULAR; MUTATION; PROTEIN AGGREGATES;

EID: 84925952747     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0112051     Document Type: Article

References (25)

1. Bygum A, Fagerberg CR, Ponard D, Monnier N, Lunardi J, et al. (2011) Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency. Allergy 66: 76-84.
2. Osler W (1888) Hereditary angio-neurotic oedema. American Journal of the Medical Sciences 95: 362-367.
3. Bork K, Hardt J, Witzke G (2012) Fatal laryngeal attacks and mortality in hereditary angioedema due to C1-INH deficiency. J Allergy Clin Immunol 130: 692-697.
4. Longhurst H, Cicardi M (2012) Hereditary angio-oedema. Lancet 379: 474-481.
5. Donaldson VH, Evans RR (1963) A Biochemical Abnormality in Herediatry Angioneurotic Edema: Absence of Serum Inhibitor of C9 1-Esterase. Am J Med 35: 37-44.
6. Rosen FS, Pensky J, Donaldson V, Charache P (1965) Hereditary Angioneurotic Edema: Two Genetic Variants. Science 148: 957-958.
7. Gompels MM, Lock RJ, Abinun M, Bethune CA, Davies G, et al. (2005) C1 inhibitor deficiency: consensus document. Clin Exp Immunol 139: 379-394.
8. Eldering E, Verpy E, Roem D, Meo T, Tosi M (1995) COOH-terminal substitutions in the serpin C1 inhibitor that cause loop overinsertion and subsequent multimerization. J Biol Chem 270: 2579-2587.
9. Bossi F, Fischetti F, Regoli D, Durigutto P, Frossi B, et al. (2009) Novel pathogenic mechanism and therapeutic approaches to angioedema associated with C1 inhibitor deficiency. J Allergy Clin Immunol 124: 1303-1310 e1304.
10. Kaplan AP (2010) Enzymatic pathways in the pathogenesis of hereditary angioedema: The role of C1 inhibitor therapy. J Allergy Clin Immunol 126: 918- 925.
11. Davis AE 3rd, Lu F, Mejia P (2010) C1 inhibitor, a multi-functional serine protease inhibitor. Thromb Haemost 104: 886-893.
12. Bos IGA, Lubbers YTP, Roem D, Abrahams JP, Hack CE, et al. (2003) The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant. The Journal of biological chemistry 278: 29463-29470.
13. Zahedi R, Aulak KS, Eldering E, Davis III AE (1996) Characterization of C1 Inhibitor-Ta. Biochemistry 271: 24307-24312.
14. Aulak KS, Eldering E, Hack CE, Lubbers YP, Harrison RA, et al. (1993) A hinge region mutation in C1-inhibitor (Ala436RThr) results in nonsubstrate-like behavior and in polymerization of the molecule. J Biol Chem 268: 18088-18094.
15. Elliott PR, Bilton D, Lomas DA (1998) Lung polymers in Z alpha1-antitrypsin deficiency-related emphysema. Am J Respir Cell Mol Biol 18: 670-674.
16. Nesterenko MV, Tilley M, Upton SJ (1994) A simple modification of Blum's silver stain method allows for 30 minute detection of proteins in polyacrylamide gels. J Biochem Biophys Methods 28: 239-242.
17. Köhler G, Milstein C (1975) Continuous cultures of fused cells secreting antibody of predefined specificity. Nature 256: 495-497.
18. Galfrè G, Milstein C (1981) Preparation of monoclonal antibodies: strategies and procedures. Methods Enzymol 73: 3-46.
19. Ey PL, Prowse SJ, Jenkin CR (1978) Isolation of pure IgG1, IgG2a and IgG2b immunoglobulins from mouse serum using protein A-sepharose. Immunochemistry 15: 429-436.
20. Beinrohr L, Harmat V, Dobo J, Lorincz Z, Gal P, et al. (2007) C1 inhibitor serpin domain structure reveals the likely mechanism of heparin potentiation and conformational disease. J Biol Chem 282: 21100-21109.
21. Bos IG, Hack CE, Abrahams JP (2002) Structural and functional aspects of C1- inhibitor. Immunobiology 205: 518-533.
22. Cicardi M, Aberer W, Banerji A, Bas M, Bernstein JA, et al. (2014) Classification, diagnosis, and approach to treatment for angioedema: consensus report from the Hereditary Angioedema International Working Group. Allergy 69: 602-616.
23. Mahadeva R, Chang WS, Dafforn TR, Oakley DJ, Foreman RC, et al. (1999) Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis. J Clin Invest 103: 999-1006.
24. Cabrita LD, Dai W, Bottomley SP (2004) Different conformational changes within the F-helix occur during serpin folding, polymerization, and proteinase inhibition. Biochemistry 43: 9834-9839.
25. Maas C, Govers-Riemslag JW, Bouma B, Schiks B, Hazenberg BP, et al. (2008) Misfolded proteins activate factor XII in humans, leading to kallikrein formation without initiating coagulation. J Clin Invest 118: 3208-3218.