Immunology and genetics of type 1 diabetes

Mount Sinai Journal of Medicine

Volumn 75, Issue 4, 2008, Pages 314-327

  Morran, Michael P ^a   Omenn, Gilbert S ^a   Pietropaolo, Massimo ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Adaptive immunity; Autoimmunity; Genetics in type 1 diabetes; Innate immunity; Type 1 diabetes

Indexed keywords

AUTOANTIBODY; EPITOPE; GAMMA INTERFERON; GLUTAMATE DECARBOXYLASE 65; HLA ANTIGEN CLASS 2; INSULIN; INTERLEUKIN 1; INTERLEUKIN 2; LEUKOCYTE ANTIGEN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; PATTERN RECOGNITION RECEPTOR; TOLL LIKE RECEPTOR; TRANSCRIPTION FACTOR FOXP3; TUMOR NECROSIS FACTOR ALPHA;

ADAPTIVE IMMUNITY; ANTIGEN PRESENTING CELL; ARTICLE; AUTOIMMUNITY; B LYMPHOCYTE; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CELLULAR IMMUNITY; CYTOKINE PRODUCTION; DISEASE COURSE; DISEASE SEVERITY; ENVIRONMENTAL FACTOR; FAMILIAL DISEASE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; GLUCOSE METABOLISM; HIGH RISK PATIENT; HUMAN; HYPERGLYCEMIA; IMMUNOREGULATION; INCIDENCE; INNATE IMMUNITY; INSULIN DEPENDENT DIABETES MELLITUS; NATURAL KILLER CELL; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; PANCREAS ISLET BETA CELL; PATHOGENESIS; REGULATORY T LYMPHOCYTE; SEASONAL VARIATION; VIRUS INFECTION;

AUTOANTIGENS; DIABETES MELLITUS, TYPE 1; DISEASE PROGRESSION; ENVIRONMENT; EPITOPES; HLA ANTIGENS; HUMANS; IMMUNITY, ACTIVE; IMMUNITY, INNATE; RISK FACTORS; T-LYMPHOCYTES;

EID: 52649150924     PISSN: 00272507     EISSN: 19317581     Source Type: Journal    
DOI: 10.1002/msj.20052     Document Type: Article

References (102)

1. Janeway CA, Travis P, Walport M, Shlomchik M. Immunobiology. 6th ed. New York, NY: Garland Science; 2007.
2. Bardsley JK, Want LL. Overview of diabetes. Crit Care Nurse Q 2004; 27: 106-112.
3. Pietropaolo M, Barinas-Mitchell E, Kuller LH. Perspectives in diabetes heterogeneity of diabetes mellitus. Unraveling a dispute: is systemic inflammation related to islet autoimmunity? Diabetes 2007; 56: 1189-1197.
4. Delovitch TL, Singh B. The nonobese diabetic mouse as a model of autoimmune diabetes: immune dysregulation gets the NOD. Immunity 1997; 7: 727-738.
5. Katz JD, Benoist C, Mathis D. T helper cell subsets in insulin-dependent diabetes. Science 1995; 268: 1185-1188.
6. Rabinovitch A, Suarez-Pinzon WL, Sorensen O. Interleukin 12 mRNA expression in islets correlates with beta-cell destruction in NOD mice. J Autoimmun 1996; 9: 645-651.
7. Von Herrath MG, Oldstone MB. Interferon-gamma is essential for destruction of beta-cells and development of insulin-dependent diabetes mellitus. J Exp Med 1997; 185: 531-539.
8. Wong FS, Janeway CA. The role of CD4 and CD8 T cells in type 1 diabetes in the NOD mouse. Res Immunol 1997; 148: 327-332.
9. Yoon JW, Jun HS, Santamaria P. Cellular and molecular mechanisms for the initiation and progression of beta-cell destruction resulting from the collaboration between macrophages and T cells. Autoimmunity 1998; 127: 109-112.
10. Lee KU, Kim MK, Amano K, et al. Preferential infiltration of macrophages during early stages of insulitis in diabetes-prone BB rats. Diabetes 1989; 37: 1053-1058.
11. Voorbij HA, Jeucken PH, Kabel PJ, et al. Dendritic cells and scavenger macrophages in pancreatic islets of pre-diabetic BB rats. Diabetes 1989; 38: 1623-1629.
12. Jansen A, Homo-Delarche F, Hooijkaas H, et al. Immunohistochemical characterization of monocyte-macrophage and dendritic cells in the initiation of insulitis and beta cell destruction in NOD mice. Diabetes 1994; 43: 667-675.
13. Lee KU, Amano K, Yoon JW. Evidence for initial involvement of macrophages in development of insulitis in NOD mice. Diabetes 1988; 37: 989-991.
14. Kawasaki E, Gill RG, Eisenbarth GS. Type 1 Diabetes Mellitus. Austin, TX: Landes Bioscience; 1999.
15. Yoon JW, Jun HS. Cellular and molecular pathogenic mechanisms of insulin-dependent diabetes mellitus. Ann N Y Acad Sci 2001; 928: 200-211.
16. Pearl-Yafe M, Kaminitz A, Yolcu ES, et al. Pancreatic islets under attack: cellular and molecular effectors. Curr Pharm Des 2007; 13: 749-760.
17. Estella F, McKenzie MD, Catterall, et al. Granzyme B-mediated death of pancreatic beta-cells requires the proapoptotic BH-3only molecule bid. Diabetes 2006; 55: 2212-2219.
18. Kawasaki E, Abiru N, Eguchi K. Prevention of type 1 diabetes: from the view point of beta cell damage. Diabetes Res Clin Pract 2004; 55(suppl 1): S27-S32.
19. Ichinose K, Kawasaki E, Eguchi K. Recent advancement of understanding pathogenesis of type 1 diabetes and potential relevance to diabetic nephropathy. Am J Nephrol 2007; 27: 554-564.
20. Atkinson MA, Eisenbarth GS. Type I diabetes: new perspectives on disease pathogenesis and treatment. Lancet 2001; 358: 221-229.
21. Finegood DT, Scaglia L, Bonner-Weir S. Dynamics of β-cell mass in the growing rat pancreas. Estimation with a simple mathematical model. Diabetes 1995; 44: 249-256.
22. Nakayama M, Abiru N, Moriyama H, et al. Prime role for an insulin epitope in the development of type 1 diabetes in NOD mice. Nature 2005; 435: 220-223.
23. Hutton JC, Wenzlau JM, Juhl K, et al. The cation efflux transporter ZnT8 (Slc30A8) is a major autoantigen in human type 1 diabetes. PNAS 2007; 104: 17040-17045.
24. Herrath MV, Sanda S, Herold K. Type 1 diabetes as a relapsing-remitting disease? Nat Rev Immunol 2007; 7: 988-994.
25. Pietropaolo M, Yu S, Libman IM, et al. Cytoplasmic islet cell antibodies remain valuable in defining the risk of progression to type 1 diabetes in subjects with other autoantibodies. Pediatr Diabetes 2005; 6: 184-192.
26. Nepom, GT. Class II antigens and disease susceptibility. Annu Rev Med 1995; 46: 17-25.
27. Serreze DV, Leiter EH. Molecular pathology of insulin dependent diabetes mellitutus. Current Directions in Autoimmunity. 2001; 4: 31-67.
28. Redondo MJ, Fain PR, Krischer P, et al. Expression of beta-cell autoimmunity does not differ between potential dizygotic twins of siblings of patients with type 1 diabetes. J Autoimmun 2004; 23: 275-279.
29. Thomson G. HLA DR antigens and susceptibility to insulin-dependent diabetes mellitus. Am J Hum Genet 1984; 36: 1309-1317.
30. Todd JA, Walker NM, Cooper JD, et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 2007; 39: 857-864.
31. Powis SH, Mockridge I, Kelly A, et al. Polymorphism in a second ABC transporter gene located within the class II region of the human major histocompatibility complex. Proc Natl Acad Sci U S A 1992; 89: 1463-1467.
32. Colonna M, Bresnahan M, Bahram S, et al. Alleleic variants of the human putative peptide transporter involved in antigen processing. Proc Natl Acad Sci U S A 1992; 89: 3932-3936.
33. Germain RN. MHC-dependent antigen processing and peptide presentation: providing ligands for T lymphocyte activation. Cell 1994; 76: 287-299.
34. Rudert WA, Trucco M. Rapid detection of sequence variation using polymers of specific oligonucleotides. Nucleic Acid Res 1992; 5: 1146.
35. Todd JA, Bell JI, McDevitt HO. HLA-DQβgene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus. Nature 1987; 329: 599-604.
36. Morel PA, Dorman JS, Todd JA, et al. Aspartic acid at position 57 of the HLA-DQ beta chain protects against type I diabetes: a family study. Proc Natl Acad Sci U S A 1988; 85: 8111-8115.
37. Trucco M. To be or not to be ASP 57, that is the question. Diabetes Care 1992; 15: 705-715.
38. Aly TA, Ide A, Jahromi MM, et al. Extreme genetic risks for type 1A diabetes. Proc Natl Acad Sci U S A 2006; 103: 14074-14079.
39. Brown JH, Jardetzky T, Saper MA, et al. A hypothetical model of the foreign antigen binding site of class II histocompatibility molecules. Nature 1988; 332: 845-850.
40. Brown JH, Jardetzky TS, Gorga JC, et al. Three-dimensional structure of the human class II histocompatibility antigen HLA-DR1. Nature 1993; 364: 33-39.
41. Jardetzky TS, Brown JH, Gorga JC, et al. Three-dimensional structure of a human class II histocompatibility molecule complexed with superantigen. Nature 1994; 368: 711-718.
42. Turco E, Manfras BJ, Ge L, et al. The x boxes from promoters of HLA class II B genes at different loci do not compete for nuclear protein-specific binding. Immunogenetics 1990; 32: 117-128.
43. Demotz S, Grey HM, Sette A. The minimal number of class II MHC-antigen complexes needed for T cell activation. Science 1990; 249: 1028-1030.
44. Akerblom HK, Knip M. Putative environmental factors in type 1 diabetes. Diabetes Metab Rev 1998; 14: 31-67.
45. Herman R, Knip M, Veijola R, et al. The FINDIANE Study Group: temporal changes in the frequencies of HLA genotypes in patients with type 1 diabetes: indication of an increased environmental pressure? Diabetologia 2003; 46: 420-425.
46. Gillespie KM, Bain SC, Barnett AH, et al. The rising incidence of childhood type 1 diabetes and reduced contribution of high-risk HLA haplotypes. Lancet 2004; 364: 1645-1647.
47. Kimpimaki T, Kupila A, Hamalaninen AM, et al. The first signs of B-cell autoimmunity appear in infancy in genetically susceptible children from the general population: the Finnish Type 1 Diabetes Prediction and Prevention Study. J Clin Endocrinol Metab 2001; 86: 4782-4788.
48. Laron Z. Lessons from recent epidemiological studies in type 1 childhood diabetes. J Pediatr Endocrinol Metab 1999; 12(suppl 3): 733-736.
49. Yoon JW. Role of viruses in the pathogenesis of IDDM. Ann Med 1991; 23: 437-445.
50. Varela-Calvino R, Peakman M. Enteroviruses and type 1 diabetes. Diabetes Metab Res Rev 2003; 19: 431-441.
51. Green J, Casabonne D, Newton R. Coxsackie B virus serology and type I diabetes mellitus: a systemic review of published case-control studies. Diabet Med 2004; 21: 507-514.
52. Barbu AR, Akusjarvi G, Welsh N. Adenoviral-mediated transduction of human pancreatic islets: importance of adenoviral genome for cell viability and association with a deficient antiviral response. Endocrinology 2005; 146: 2406-2414.
53. Chen LK, Chou YC, Tsai ST, et al. Hepatitis C virus infection-related type 1 diabetes mellitus. Diabet Med 2005; 22: 340-343.
54. Jun HS, Yoon JW. A new look at viruses in type 1 diabetes. Diabetes Metab Res Rev 2002; 19: 8-31.
55. Honeyman MC, Coulson BS, Stone NL, et al. Association between rotavirus infection and pancreatic islet autoimmunity in children at risk of developing type 1 diabetes. Diabetes 2000; 49: 1319-1324.
56. Atkinson, MA, Bowman MA, Campbell L, et al. Cellular immunity to a determinant common to glutamic decarboxylase and Coxsackie virus in insulin-dependent diabetes. J Clin Invest 1994; 94: 2125-2129.
57. Titan J, Lehmann PV, Kaufman DL. T cell cross-reactivity between Coxsackie virus and glutamate decarboxylase is associated with a murine diabetes susceptibility allele. J Exp Med 1994; 180: 1979-1984.
58. Takeda K, Kaisho T, Akira S. Toll-like receptors. Annu Rev Immunol 2003; 21: 335-376.
59. Dabbagh K, Lewis DB. Toll-like receptors and T-helper-1/T-helper-2 responses. Curr Opin Infect Dis 2003; 16: 199.
60. Pasare C, Medzhitov R. Toll-like receptors and acquired immunity. Semin Immunol 2004; 16: 23-26.
61. Akira S, Uematsu S, Takeuchi O. Pathogen recognition and innate immunity. Cell 2006; 124: 783-801.
62. Godfrey DI, Hammond KJ, Poulton LD, et al. NKT cells: facts, functions and fallacies. Immunol Today 2000; 21: 573-583.
63. Medzhitov R. Toll-like receptors and innate immunity. Nat Rev Immunol 2001; 1: 135-145.
64. Akira S, Takeda K. Toll-like receptor signaling. Nat Rev Immunol 2004; 4: 499-511.
65. Kawai T, Akira S. TLR signaling. Nature 2006; 13: 816-825.
66. Johnson GB, Brunn GJ, Platt JL. Activation of mammalian Toll-like receptors by endogenous agonists. Crit Rev Immunol 2003; 23: 15.
67. Termeer C, Benedix F, Sleeman, J, et al. Oligosaccharides of hyaluronan activate dendritic cells via toll-like receptor 4. J Exp Med 2002; 195: 99.
68. Buttari B, Profumo E, Mattei V, et al. Oxidized beta2glycoprotein I induces human dendritic cell maturation and promotes a T helper type 1 response. Blood 2005; 106: 3880.
69. McSorley SJ, Ehst BD, Yu Y, Gewirtz AT. Bacterial flagellin is an effective adjuvant for CD4+ T cells in vivo. J Immunol 2002; 169: 3914-3919.
70. Martin DA, Elkon KB. Autoantibodies make a U-turn: the toll hypothesis for autoantibody specificity. J Exp Med 2005; 202: 1465-1469.
71. Fritz JH, Le Bourhis L Sellge G, et al. Nod-like proteins in immunity, inflammation and disease. Nat Immunol 2006; 12: 1250-1257.
72. Klesney-Tait J, Turnbull IR, Colonna M. The TREM receptor family and signal integration. Nat Immunol 2006; 12: 1266-1273.
73. Robinson MJ, Sancho D, Slack EC, et al. Myeloid C-type lectins in innate immunity. Nat Immunol 2006; 12: 1258-1265.
74. Beyan H, Buckley LR, Yousaf N, et al. A role for innate immunity in type 1 diabetes?. Diabetes Metab Res Rev 2003; 19: 89-100.
75. Jun HS, Yoon CS, Zbytnuik L, et al. The role of macrophages in T-cell mediated autoimmune diabetes in nonobese diabetic mice. J Exp Med 1999; 189: 347-358.
76. Oschilewski U, Kiesel U, Kolb H. Administration of silica prevents diabetes in BB rats. Diabetes 1985; 34: 197-199.
77. Lee KU, Pak CY, Amano K, Yoon JW. Prevention of lymphocytic thyroditis and insulitis in diabetes prone BB rats by the depletion of macrophages. Diabetologia 1988; 31: 400-402.
78. Medzhitov R, Janeway CA Jr. Innate immunity: the virtues of a nonclonal system of recognition. Cell 1997; 91: 295-298.
79. Bottazzo GF, Dean BM, McNally JM, et al. In situ characterization of autoimmune phenomena and expression of HLA molecules in the pancreas in diabetic insulitis. New Engl J Med 1985; 313: 353-360.
80. Conrad B, Weidman E, Trucco G, et al. Evidence for superantigen involvement in insulin-dependent diabetes mellitus etiology. Nature 1994; 371: 351-355.
81. Levisetti MG, Suri A, Petzold SJ, Unanue ER. The insulin-specific T cells of nonobese diabetic mice recognize a weak MHC-binding segment in more than one form. J Immunol 2007; 178: 6051-6057.
82. Khatrri R, Cox T, Yasayko SA, Ramsdell F. An essential role for scurfin in CD+4CD+25 T-regulatory cells. Nat Immunol 2003; 4: 337-342.
83. Fontenot JD, Gavin MA, Rudensky AY. FoxP3 programs the development and function of CD+4 CD+25 regulatory T-cells. Nat Immunol 2003; 4: 330-336.
84. Hori S, Nomura T, Sakaguchi S. Control of regulatory T cell development by the transcription factor Foxp3. Science 2004; 299: 1057-1061.
85. Randolph DA, Fathman CG. CD+4CD+25 regulatory T cells and their therapeutic potential. Annu Rev Med 2006; 57: 381-402.
86. St. Clair EW, Turka LA, Saxon A, et al. New reagents on the horizon for immune tolerance. Annu Rev Med 2007; 58: 329-346.
87. Bluestone JA, Tang Q. How do CD4+CD25+ regulatory T cells control autoimmunity? Curr Opin Immunol 2005; 17: 638-642.
88. Tang Q, Bluestone JA. Regulatory T-cell physiology and application to treat autoimmunity. Immunol Rev 2006; 212: 217-237.
89. Brusko TM, Wasserfall CH, Clare-Salzler MJ, et al. Functional defects and the influence of age on the frequency of CD+4CD+25 T-cells in type 1 diabetes. Diabetes 2005; 54: 1407-1414.
90. Lindley S, Dayan CM, Bishop A, et al. Defective suppressor function in CD+4CD+25 t cells from patients with type 1 diabetes. Diabetes 2005; 54: 92-99.
91. Putnam AL, Vendrame F, Dotta F, Gottlieb PA. CD+4 CD+25 high regulatory T cells in human autoimmune diabetes. J Autoimmun 2005; 24: 55-62.
92. Mason D, Powrie F. Control of immune pathology by regulatory T cells. Curr Opin Immunol 1998; 10: 649-655.
93. Bendelac A. Mouse NK+1 T cells. Curr Opin Immunol 1995; 7: 367.
94. Bendelac A, Rivera MN, Park SH, Roark JH. Mouse CD1-specific NK1 T cells-development, specificity, and function. Ann Rev Immunol 1997; 15: 535-562.
95. Macdonald HR. NK1.1+ T cell receptor-α β+ cell-new clues to their origin, specificity, and function. J Exp Med 1995; 182: 633-638.
96. Burdin N, Brossay L, Kronenberg M. Immunization with α-galactosylceramyde polarizes CD1-reactive NK T-cells toward Th2 cytokine synthesis. Eur J Immunol 1999; 29: 2014-2025.
97. Singh N, Hong S, Scherer DC, et al. Cutting edge: activation of NK T-cells by CD1d and α-galactosylceramyde directs conventional T cells to the acquisition of a Th2 phenotype. J Immunol 1999; 163: 237-2377.
98. Wilson SB, Kent SC, Patton KT, et al. Extreme Th1 bias of invariant Vα 24Jα Q T cells in type 1 diabetes. Nature 1998; 391: 177-181.
99. Hammond KJL, Poulton LD, Palimsano LJ, et al. α β-T cell receptor (TCR)+ CD-4 CD-8 (NKT) thymocytes prevent insulin-dependent diabetes mellitus in nonobese diabetic (NOD/Lt) mice by the influence of interleukin-4 (IL-4) and/or IL-10. J Exp Med 1998; 187: 1047-1056.
100. Smink LJ, Helton EM, Healy BC, et al. T1DBase, a community web-based resource for type 1 diabetes research. Nucleic Acids Res 2005; 1(33): D544-D549.
101. Cohen CD, Klingenhoff A, Boucherot A, et al. Comparative promoter analysis allows de novo identification of specialized cell junction-associated proteins. PNAS 2006; 103: 5682-5687.
102. Anderson MS, Bluestone JA. The NOD mouse: a model of immune dysregulation. Annu Rev Immunol 2005; 23: 447-485.