Modeling how CD46 deficiency predisposes to atypical hemolytic uremic syndrome

Molecular Immunology

Volumn 44, Issue 7, 2007, Pages 1559-1568

  Liszewski, M Kathryn ^a   Leung, Marilyn K ^a   Schraml, Barbara ^a   Goodship, Timothy H J ^b   Atkinson, John P ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Alternative pathway of complement; CD46; CD55; Complement; DAF; Hemolytic uremic syndrome; MCP

Indexed keywords

COMPLEMENT COMPONENT C3B; DECAY ACCELERATING FACTOR; MEMBRANE COFACTOR PROTEIN; COMPLEMENT FACTOR H; ISOPROTEIN;

ANIMAL CELL; ARTICLE; COMPLEMENT ACTIVATION; COMPLEMENT ALTERNATIVE PATHWAY; COMPLEMENT CLASSICAL PATHWAY; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; GENE AMPLIFICATION; GENETIC TRANSFECTION; HEMOLYTIC UREMIC SYNDROME; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; WILD TYPE; ANIMAL; BIOLOGICAL MODEL; CELL CULTURE; CHEMISTRY; CHO CELL; CRICETULUS; GENETIC PREDISPOSITION; GENETICS; HAMSTER; HUMAN; IMMUNOLOGY; METABOLISM; MUTATION; PROTEIN CONFORMATION;

CRICETULUS GRISEUS;

ANIMALS; ANTIGENS, CD46; ANTIGENS, CD55; CELLS, CULTURED; CHO CELLS; COMPLEMENT C3B; COMPLEMENT FACTOR H; COMPLEMENT PATHWAY, CLASSICAL; CRICETINAE; CRICETULUS; GENETIC PREDISPOSITION TO DISEASE; HEMOLYTIC-UREMIC SYNDROME; HUMANS; MODELS, BIOLOGICAL; MUTATION; PROTEIN CONFORMATION; PROTEIN ISOFORMS;

EID: 33751214235     PISSN: 01615890     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molimm.2006.08.024     Document Type: Article

References (47)

1. Andrews P.W., Knowles B.B., Parkar M., Pym B., Stanley K., and Goodfellow P.N. A human cell-surface antigen defined by a monoclonal antibody and controlled by a gene on human chromosome 1. Ann. Hum. Genet. 49 (1985) 31-39
2. Atkinson J.P., Liszewski M.K., Richards A., Kavanagh D., and Moulton E.A. Hemolytic uremic syndrome: an example of insufficient complement regulation on self-tissue. Ann. N. Y. Acad. Sci. 1056 (2005) 144-152
3. Barilla-LaBarca M.L., Liszewski M.K., Lambris J.D., Hourcade D., and Atkinson J.P. Role of membrane cofactor protein (CD46) in regulation of C4b and C3b deposited on cells. J. Immunol. 168 (2002) 6298-6304
4. Caprioli J., Noris M., Brioschi S., Pianetti G., Castelletti F., Bettinaglio P., Mele C., Bresin E., Cassis L., Gamba S., Porrati F., Bucchioni S., Monteferrante G., Fang C.J., Liszewski M.K., Kavanagh D., Atkinson J.P., and Remuzzi G. Genetics of HUS: the impact of MCP, CFH and IF mutations on clinical presentation, response to treatment, and outcome. Blood 108 (2006) 1267-1279
5. Constantinescu A.R., Bitzan M., Weiss L.S., Christen E., Kaplan B.S., ACnaan A., and Trachtman H. Pathogenesis and treatment of kidney disease and hypertension. Non-enteropathic hemolytic uremic syndrome: causes and short-term course. Am. J. Kid. Dis. 43 (2004) 976-982
6. Devaux P., Christiansen D., Fontaine M., and Gerlier D. Control of C3b and C5b deposition by CD46 (membrane cofactor protein) after alternative but not classical complement activation. Eur. J. Immunol. 29 (1999) 815-822
7. Dragon-Durey M.-A., and Fremeaux-Bacchi V. Atypical haemolytic uraemic syndrome and mutations in complement regulator genes. Springer Semin. Immunopathol. 27 (2005) 359-374
8. Dragon-Durey M.-A., Loirat C., Cloarec S., Macher M.-A., Blouin J., Nivet H., Weiss L., Fridman W.H., and Fremeaux-Bacchi V. Anti-factor H autoantibodies associated with atypical hemolytic uremic syndrome. J. Am. Soc. Nephrol. 16 (2005) 555-563
9. Edwards A.O., Ritter III R., Abel K.J., Manning A., Panhuysen C., and Farrer L.A. Complement factor H polymorphism and age-related macular degeneration. [see comment]. Science 308 (2005) 421-424
10. Elliott M.K., Jarmi T., Ruiz P., Xu Y., Holers V.M., and Gilkeson G.S. Effects of complement factor D deficiency on the renal disease of MRL/lpr mice. Kidney Int. 65 (2004) 129-138
11. Esparza-Gordillo J., Goicoechea de Jorge E., Buil A., Berges L.C., Lopez-Trascasa M., Sanchez-Corral P., and Rodriguez de Cordoba S. Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32. Hum. Mol. Genet. 14 (2005) 703-712
12. Esparza-Gordillo J., Jorge E.G., Garrido C.A., Carreras L., Lopez-Trascasa M., Sanchez-Corral P., and de Cordoba S.R. Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree. Mol. Immunol. 43 (2006) 1769-1775
13. Fremeaux-Bacchi V., Dragon-Durey M.-A., Blouin J., Vigneau C., Kuypers D., Boudailiez B., Loirat C., Rondeau E., and Fridman W.H. Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. J. Med. Genet. 41 (2004) e84
14. Fremeaux-Bacchi V., Kemp E.J., Goodship J.A., Dragon-Durey M.-A., Strain L., Loirat C., Deng H.-W., and Goodship T.H.J. The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts. J. Med. Genet. 42 (2005) 852-856
15. Fremeaux-Bacchi V., Moulton E.A., Kavanagh D., Dragon-Durey M.-A., Blouin J., Caudy A., Arzouk N., Cleper R., Francois M., Guest G., Pourrat J., Seligman R., Fridman W.H., Loirat C., and Atkinson J.P. Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. J. Am. Soc. Nephrol. 17 (2006) 2017-2025
16. Goodship T.H.J., Liszewski M.K., Kemp E.J., Richards A., and Atkinson J.P. Mutations in CD46, a complement regulatory protein, predispose to atypical HUS. TRENDS Mol. Med. 10 (2004) 226-231
17. Gunning P., Leavitt J., Muscat G., Ng S.Y., and Kedes L. A human beta-actin expression vector system directs high-level accumulation of antisense transcripts. Proc. Natl. Acad. Sci. USA 84 (1987) 4831-4835
18. Hageman G.S., Anderson D.H., Johnson L.V., Hancox L.S., Taiber A.J., Hardisty L.I., Hageman J.L., Stockman H.A., Borchardt J.D., Gehrs K.M., Smith R.J., Silvestri G., Russell S.R., Klaver C.C., Barbazetto I., Chang S., Yannuzzi L.A., Barile G.R., Merriam J.C., Smith R.T., Olsh A.K., Bergeron J., Zernant J., Merriam J.E., Gold B., Dean M., and Allikmets R. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc. Natl. Acad. Sci. USA 102 (2005) 7227-7232
19. Haines J.L., Hauser M.A., Schmidt S., Scott W.K., Olson L.M., Gallins P., Spencer K.L., Kwan S.Y., Noureddine M., Gilbert J.R., Schnetz-Boutaud N., Agarwal A., Postel E.A., and Pericak-Vance M.A. Complement factor H variant increases the risk of age-related macular degeneration. [see comment]. Science 308 (2005) 419-421
20. Hammar S.P., Bloomer H.A., and McCloskey D. Adult hemolytic uremic syndrome with renal arteriolar deposition of IgM andC3. Am. J. Clin. Pathol. 70 (1978) 434-439
21. Kavanagh D., Kemp E.J., Mayland E., Winney R.J., Duffield J., Warwick G., Richards A., Ward R., Goodship J.A., and Goodship T.H.J. Mutations in complement factor I predispose to the development of atypical hemolytic uremic syndrome. J. Am. Soc. Nephrol. 16 (2005) 2150-2155
22. Klein R.J., Zeiss C., Chew E.Y., Tsai J.Y., Sackler R.S., Haynes C., Henning A.K., Sangiovanni J.P., Mane S.M., Mayne S.T., Bracken M.B., Ferris F.L., Ott J., Barnstable C., and Hoh J. Complement factor H polymorphism in age-related macular degeneration. [see comment]. Science 308 (2005) 385-389
23. Kojima A., Iwata K., Seya T., Matsumoto M., Ariga H., Atkinson J.P., and Nagasawa S. Membrane cofactor protein (CD46) protects cells predominantly from alternative complement pathway-mediated C3-fragment deposition and cytolysis. J. Immunol. 151 (1993) 1519-1527
24. Liszewski M.K., and Atkinson J.P. Membrane cofactor protein (MCP; CD46), Isoforms differ in protection against the classical pathway of complement. J. Immunol. 156 (1996) 4415-4421
25. Liszewski M.K., Leung M., Cui W., Bala Subramanian V., Parkinson J., Barlow P.N., Manchester M., and Atkinson J.P. Dissecting sites important for complement regulatory activity in membrane cofactor protein (MCP; CD46). J. Biol. Chem. 275 (2000) 37692-37701
26. Liszewski M.K., Kemper C., Price J.D., and Atkinson J.P. Emerging roles and new functions of CD46. Springer Semin. Immunopathol. 27 (2005) 345-358
27. Manuelian T., Hellwage J., Meri S., Caprioli J., Noris M., Heinen S., Jozsi M., Neumann H.P., Remuzzi G., and Zipfel P.F. Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome. J. Clin. Invest. 111 (2003) 1181-1190
28. Medof M.E., Lublin D.M., Holers V.M., Ayers D.J., Getty R.R., Leykam J.F., Atkinson J.P., and Tykocinski M.L. Cloning and characterization of cDNAs encoding the complete sequence of decay-accelerating factor of human complement. Proc. Natl. Acad. Sci. USA 84 (1987) 2007-2011
29. Moake J.L. Thrombotic microangiopathies. N. Engl. J. Med. 347 (2002) 589-600
30. Mullins R.F., Aptsiauri N., and Hageman G.S. Structure and composition of drusen associated with glomerulonephritis: implications for the role of complement activation in drusen biogenesis. Eye 15 (2001) 390-395
31. Noris M., Ruggenenti P., Perna A., Orisio S., Caprioli J., Skerka C., Vasile B., Zipfel P.F., and Remuzzi G. Hypocomplementemia discloses genetic predisposition to hemolytic uremic syndrome and thrombotic thrombocytopenic purpura: role of factor H abnormalities. Italian Registry of Familial and Recurrent Hemolytic Uremic Syndrome/Thrombotic Thrombocytopenic Purpura. J. Am. Soc. Nephrol. 10 (1999) 281-293
32. Noris M., Brioschi S., Caprioli J., Todeschini M., Bresin E., Porrati F., Gamba S., and Remuzzi G. Familial haemolytic uraemic syndrome and an MCP mutation. Lancet 362 (2003) 1542-1547
33. Noris M., and Remuzzi G. Hemolytic uremic syndrome. J. Am. Soc. Nephrol. 16 (2005) 1035-1050
34. Perez-Caballero D., Gonzalez-Rubio C., Gallardo M.E., Vera M., Lopez-Trascasa M., Rodriguez de Cordoba S., and Sanchez-Corral P. Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome. Am. J. Hum. Genet 68 (2001) 478-484
35. Pirson Y., Lefebvre C., Arnout C., and van Ypersele de Strihou C. Hemolytic uremic syndrome in three adult siblings: a familial study and evolution. Clin. Nephrol. 28 (1987) 250-255
36. Richards A., Buddles M.R., Donne R.L., Kaplan B.S., Kirk E., Venning M.C., Tielemans C.L., Goodship J.A., and Goodship T.H. Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition. Am. J. Hum. Genet 68 (2001) 485-490
37. Richards A., Goodship J., and Goodship T.H. The genetics and pathogenesis of haemolytic uraemic syndrome and thrombocytopenic purpura. Curr. Opin. Nephrol. Hypertens 11 (2002) 431-436
38. Richards A., Kemp E.J., Liszewski M.K., Goodship J.A., Lampe A.K., Decorte R., Muslumanolu M.H., Kavukcu S., Filler G., Pirson Y., Wen L.S., Atkinson J.P., and Goodship T.H.J. Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. Proc. Natl. Acad. Sci. USA 100 (2003) 12966-12971
39. Richards, A., Liszewski, M.K., Kavanagh, D., Fang, C.J., Moulton, E.A., Fremeaux-Bacchi, V., Remuzzi, G., Noris, M., Goodship, T.H.J., Atkinson, J.P. (in press). Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome. Mol. Immunol.
40. Rodriguez de Cordoba S., Lublin D.M., Rubinstein P., and Atkinson J.P. The human genes for three complement components that regulate the activation of C3 are tightly linked. J. Exp. Med. 161 (1985) 1189-1195
41. Seya T., and Atkinson J.P. Functional properties of membrane cofactor protein of complement. Biochem. J. 264 (1989) 581-588
42. Stuhlinger W., Kourilsky O., Kanfer A., and Sraer J.D. Letter: haemolytic-uraemic syndrome: evidence for intravascular C3 activation. Lancet 2 (1974) 788-789
43. Taylor C.M., Chua C., Howie J.J., and Risdon R. Clinico-pathological findings in diarrhoea-negative haemolytic uraemic syndrome. Pediatr. Nephrol. 19 (2004) 419-425
44. Thurman J.M., and Holers V.M. The central role of the alternative complement pathway in human disease. J. Immunol. 176 (2006) 1305-1310
45. Warwicker P., Goodship T.H.J., Donne R.L., Pirson Y., Nicholls A., Ward R.M., Turnpenny P., and Goodship J.A. Genetic studies into inherited and sporadic hemolytic uremic syndrome. Kidney Int. 53 (1998) 836-844
46. Watanabe H., Garnier G., Circolo A., Wetsel R.A., Ruiz P., Holers V.M., Boackle S.A., Colten H.R., and Gilkeson G.S. Modulation of renal disease in MRL/lpr mice genetically deficient in the alternative complement pathway factor B. J. Immunol. 164 (2000) 786-794
47. Zipfel P.F., Heinen S., Jozsi M., and Skerka C. Complement and diseases: defective alternative pathway control results in kidney and eye diseases. Mol. Immunol. 43 (2006) 97-106