Specific increase in caspase-1 activity and secretion of IL-1 family cytokines: A putative link between mevalonate kinase deficiency and inflammation

European Cytokine Network

Volumn 20, Issue 3, 2009, Pages 101-107

  Normand, Sylvain ^a   Massonnet, Benoit ^a,d   Delwail, Adriana ^a   Favot, Laure ^a   Cuisset, Laurence ^b   Grateau, Gilles ^c   Morel, Franck ^a   Silvain, Christine ^a,d   Lecron, Jean Claude ^a,d  

^a UNIVERSITÉ DE POITIERS   (France)

^b INSTITUT COCHIN   (France)

^c HÔPITAL TENON   (France)

^d POITIERS UNIVERSITY HOSPITAL   (France)

Author keywords

Caspase 1; HIDS; IL 1 family cytokines; Mevalonate kinase deficiency

Indexed keywords

CRYOPYRIN; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; INTERLEUKIN 18 BINDING PROTEIN; INTERLEUKIN 1BETA; INTERLEUKIN 1BETA CONVERTING ENZYME; ISOPRENOID; MEVALONATE KINASE; RAC1 PROTEIN; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; SIMVASTATIN;

CYTOKINE PRODUCTION; DONOR; ENZYME ACTIVITY; ENZYME INHIBITION; FIBROBLAST; GENE MUTATION; HEREDITARY PERIODIC FEVER; HUMAN; HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME; IN VITRO STUDY; INFLAMMATION; MEVALONATE KINASE DEFICIENCY; MEVALONIC ACIDURIA; MOLECULAR MECHANICS; MONOCYTE; NONHUMAN; PRESCRIPTION; REVIEW; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME;

ANIMALS; CASPASE 1; DISEASE MODELS, ANIMAL; HUMANS; HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS; INFLAMMATION; INTERLEUKIN-1; MEVALONATE KINASE DEFICIENCY;

EID: 70849083191     PISSN: 11485493     EISSN: None     Source Type: Journal    
DOI: 10.1684/ecn.2009.0163     Document Type: Review

References (63)

1. Drenth JP, Cuisset L, Grateau G, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet 1999; 22: 178-181 (Pubitemid 29264814)
2. Houten SM, Kuis W, Duran M, et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 1999; 22: 175-177 (Pubitemid 29264813)
3. Hoffmann G, Gibson KM, Brandt IK, et al. Mevalonic aciduria- -an inborn error of cholesterol and nonsterol isoprene biosynthesis. N Engl J Med 1986; 314: 1610-1614 (Pubitemid 16118218)
4. Schafer BL, Bishop RW, Kratunis VJ, et al. Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. J Biol Chem 1992; 267: 13229-13238
5. Simon A, Kremer HP, Wevers RA, et al. Mevalonate kinase deficiency: Evidence for a phenotypic continuum. Neurology 2004; 62: 994-997 (Pubitemid 38435796)
6. McDermott MF, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999; 97: 133-144 (Pubitemid 29165896)
7. Church LD, Churchman SM, Hawkins PN, et al. Hereditary autoinflammatory disorders and biologics. Springer Semin Immunopathol 2006; 27: 494-508.
8. Nedjai B, Hitman GA, Quillinan N, et al. Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2009; 60: 619-625
9. Gattorno M, Pelagatti MA, Meini A, et al. Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2008; 58: 1516-1520 (Pubitemid 351705941)
10. Sacre K, Brihaye B, Lidove O, et al. Dramatic improvement following interleukin 1beta blockade in tumor necrosis factor receptor-1-associated syndrome (TRAPS) resistant to anti-TNF-alpha therapy. J Rheumatol 2008; 35: 357-358 (Pubitemid 351281163)
11. Simon A, Bodar EJ, van der Hilst JC, et al. Beneficial response to interleukin 1 receptor antagonist in traps. Am J Med 2004; 117: 208-210 (Pubitemid 39055877)
12. The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997; 17: 25-31.
13. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997; 90: 797-807.
14. Feldmann J, Prieur AM, Quartier P, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 2002; 71: 198-203. (Pubitemid 34734724)
15. Hoffman HM, Mueller JL, Broide DH, et al. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001; 29: 301-305
16. Agostini L, Martinon F, Burns K, et al. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 2004; 20: 319-325 (Pubitemid 38388233)
17. Chae JJ, Wood G, Masters SL, et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc Natl Acad Sci USA 2006; 103: 9982-9987
18. Cerretti DP, Kozlosky CJ, Mosley B, et al. Molecular cloning of the interleukin-1 beta converting enzyme. Science 1992; 256: 97-100.
19. Gu Y, Kuida K, Tsutsui H, Ku G, et al. Activation of interferon-gamma inducing factor mediated by interleukin-1beta converting enzyme. Science 1997; 275: 206-209 (Pubitemid 27034760)
20. Chae JJ, Komarow HD, Cheng J, et al. Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell 2003; 11: 591-604. (Pubitemid 36385116)
21. Papin S, Cuenin S, Agostini L, et al. The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing. Cell Death Differ 2007; 14: 1457-1466 (Pubitemid 47096500)
22. Yu JW, Wu J, Zhang Z, et al. Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization. Cell Death Differ 2006; 13: 236-249 (Pubitemid 43102207)
23. Galon J, Aksentijevich I, McDermott MF, et al. TNFRSF1A mutations and autoinflammatory syndromes. Curr Opin Immunol 2000; 12: 479-486
24. Haas D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis 2006; 1: 13.
25. Prieur AM, Griscelli C. Nosologic aspects of systemic forms of very-early-onset juvenile arthritis. Apropos of 17 cases. Sem Hop 1984; 60: 163-167
26. Drenth JP, Goertz J, Daha MR, et al. Immunoglobulin D enhances the release of tumor necrosis factor-alpha, and interleukin-1 beta as well as interleukin-1 receptor antagonist from human mononuclear cells. Immunology 1996; 88: 355-362 (Pubitemid 26225157)
27. Levan-Petit I, Lelievre E, Barra A, et al. L'IgD : une immunoglobuline un peu oubliée revient sur le devant de la scène. M/S 1999; 15: 655-662 (Pubitemid 29261601)
28. Medlej-Hashim M, Petit I, Adib S, et al. Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations. Eur J Hum Genet 2001; 9: 849-854 (Pubitemid 34030716)
29. Dode C, Andre M, Bienvenu T, et al. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2002; 46: 2181-2188 (Pubitemid 34894775)
30. Levan-Petit I, Cardonna J, Garcia M, et al. Sensitive ELISA for human immunoglobulin D measurement in neonate, infant, and adult sera. Clin Chem 2000; 46: 876-878 (Pubitemid 30397460)
31. Ammouri W, Cuisset L, Rouaghe S, et al. Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. Oxford: Rheumatology, 2007 [Please, add volume and pages].
32. Chen K, Xu W, Wilson M, et al. Immunoglobulin D enhances immune surveillance by activating antimicrobial, proinflammatory and B cell-stimulating programs in basophils. Nat Immunol 2009; 10: 889-898
33. Drenth JP, van Deuren M, van der Ven-Jongekrijg J, et al. Cytokine activation during attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Blood 1995; 85: 3586-3593
34. Mandey SH, Kuijk LM, Frenkel J, et al. A role for geranylgeranylation in interleukin-1beta secretion. Arthritis Rheum 2006; 54: 3690-3695
35. Drenth JP, van der Meer JW, Kushner I. Unstimulated peripheral blood mononuclear cells from patients with the hyper-IgD syndrome produce cytokines capable of potent induction of C-reactive protein and serum amyloid A in Hep3B cells. J Immunol 1996; 157: 400-404 (Pubitemid 26190573)
36. Hager EJ, Tse HM, Piganelli JD, et al. Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome. J Inherit Metab Dis 2007; 30: 888-895
37. Ohashi K, Osuga J, Tozawa R, et al. Early embryonic lethality caused by targeted disruption of the 3-hydroxy-3-methylglutaryl-CoA reductase gene. J Biol Chem 2003; 278: 42936-42941 (Pubitemid 37345905)
38. Tozawa R, Ishibashi S, Osuga J, Yagyu H, et al. Embryonic lethality and defective neural tube closure in mice lacking squalene synthase. J Biol Chem 1999; 274: 30843-30848 (Pubitemid 129576831)
39. Marcuzzi A, Pontillo A, De Leo L, et al. Natural isoprenoids are able to reduce inflammation in a mouse model of mevalonate kinase deficiency. Pediatr Res 2008; 64: 177-182
40. Borghi C, Dormi A, Veronesi M, et al. Use of lipid-lowering drugs and blood pressure control in patients with arterial hypertension. J Clin Hypertens 2002; 4: 277-285 (Greenwich). (Pubitemid 34884804)
41. Duriez P. Current practice in the treatment of hyperlipidaemias. Expert Opin Pharmacother 2001; 2: 1777-1794
42. Gaw A. A new reality: achieving cholesterol-lowering goals in clinical practice. Atheroscler Suppl 2002; 2:5-8 (discussion 8-11).
43. Stein E. The lower the better? Reviewing the evidence for more aggressive cholesterol reduction and goal attainment. Atheroscler Suppl 2002; 2: 19-23 (discussion 23-5). (Pubitemid 38229262)
44. Kiener PA, Davis PM, Murray JL, et al. Stimulation of inflammatory responses in vitro and in vivo by lipophilic HMG-CoA reductase inhibitors. Int Immunopharmacol 2001; 1: 105-118
45. Kuijk LM, Mandey SH, Schellens I, et al. Statin synergizes with LPS to induce IL-1beta release by THP-1 cells through activation of caspase-1. Mol Immunol 2008; 45: 2158-2165
46. Massonnet B, Normand S, Moschitz R, et al. Pharmacologic inhibitors of the mevalonate pathway activate pro-IL-1 processing and IL-1 release by human monocytes. Eur Cytokine Netw 2009; 20: 112-120
47. Mantuano E, Santi S, Filippi C, et al. Simvastatin and fluvastatin reduce interleukin-6 and interleukin-8 lipopolysaccharide (LPS) stimulated production by isolated human monocytes from chronic kidney disease patients. Biomed Pharmacother 2007; 61: 360-365
48. Frenkel J, Rijkers GT, Mandey SH, et al. Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 2002; 46: 2794-2803 (Pubitemid 36118945)
49. Greenwood J, Steinman L, Zamvil SS. Statin therapy and autoimmune disease: from protein prenylation to immunomodulation. Nat Rev Immunol 2006; 6: 358-370
50. Rosenson RS, Tangney CC, Casey LC. Inhibition of proinflammatory cytokine production by pravastatin. Lancet 1999; 353: 983-984 (Pubitemid 29132615)
51. Ferro D, Parrotto S, Basili S, Alessandri C, et al. Simvastatin inhibits the monocyte expression of proinflammatory cytokines in patients with hypercholesterolemia. J Am Coll Cardiol 2000; 36: 427-431 (Pubitemid 30624003)
52. Houten SM, Schneiders MS, Wanders RJ, et al. Regulation of isoprenoid/ cholesterol biosynthesis in cells from mevalonate kinasedeficient patients. J Biol Chem 2003; 278: 5736-5743
53. Seabra MC. Membrane association and targeting of prenylated Ras-like GTPases. Cell Signal 1998; 10: 167-172
54. Kuijk LM, Beekman JM, Koster J, et al. Frenkel J, Coffer PJ. HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation. Blood 2008; 112: 3563-3573
55. Basak C, Pathak SK, Bhattacharyya A, et al. NF-kappaB- and C/EBPbeta-driven interleukin-1beta gene expression and PAK1-mediated caspase-1 activation play essential roles in interleukin-1beta release from Helicobacter pylori lipopolysaccharidestimulated macrophages. J Biol Chem 2005; 280: 4279-4288
56. Cailliez M, Garaix F, Rousset-Rouviere C, et al. Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis. J Inherit Metab Dis 2006; 29: 763.
57. van der Hilst JC, Bodar EJ, Barron KS, et al. Long-term followup, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine 2008; 87: 301-310 (Baltimore).
58. Boschan C, Witt O, Lohse P, et al. Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment. Am J Med Genet A 2006; 140: 883-886
59. Ramos E, Arostegui JI, Campuzano S, et al. Positive clinical and biochemical responses to anakinra in a 3-yr-old patient with cryopyrin-associated periodic syndrome (CAPS). Rheumatology 2005; 44: 1072-1073 (Oxford). (Pubitemid 41487188)
60. Aksentijevich I, Masters SL, Ferguson PJ, et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med 2009; 360: 2426-2437
61. Dinarello CA. Interleukin-1beta and the autoinflammatory diseases. N Engl J Med 2009; 360: 2467-2470
62. Reddy S, Jia S, Geoffrey R, et al. An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med 2009; 360: 2438-2444
63. Katz Y, Strunk RC. Synovial fibroblast-like cells synthesize seven proteins of the complement system. Arthritis Rheum 1988; 31: 1365-1370 (Pubitemid 19012499)