Pancreatic beta-cell apoptosis in maturity onset diabetes of the young

Canadian Journal of Diabetes

Volumn 31, Issue 1, 2007, Pages 67-74

  Johnson, James D ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Glucokinase; Hepatocyte nuclear factor; Insulin secretion; Metabolism; Pancreatic duodenal homeobox 1

Indexed keywords

GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 1BETA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INSULIN; NEUROGENIC DIFFERENTIATION FACTOR; TRANSCRIPTION FACTOR PDX 1;

ADOLESCENT DISEASE; APOPTOSIS; CELL FUNCTION; CELL METABOLISM; DISEASE COURSE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HUMAN; INSULIN RELEASE; MATURITY ONSET DIABETES MELLITUS; MULTIFACTORIAL INHERITANCE; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; PANCREAS ISLET BETA CELL; REVIEW;

EID: 34047130661     PISSN: 14992671     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1499-2671(07)11013-3     Document Type: Article

References (75)

1. Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med. 2001;345:971-980.
2. Mitchell SM, Frayling TM. The role of transcription factors in maturity-onset diabetes of the young. Mol Genet Metab. 2002;77:35-43.
3. Froguel P, Zouali H, Vionnet N, et al. Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. N Engl J Med. 1993;328:697-702.
4. Shih DQ, Heimesaat M, Kuwajima S, et al. Profound defects in pancreatic beta-cell function in mice with combined heterozygous mutations in Pdx-1, Hnf-1alpha, and Hnf-3beta. Proc Natl Acad Sci U S A. 2002;99:3818-3823.
5. Wobser H, Dussmann H, Kogel D, et al. Dominant-negative suppression of HNF-1 alpha results in mitochondrial dysfunction, INS-1 cell apoptosis, and increased sensitivity to ceramide-, but not to high glucose-induced cell death. J Biol Chem. 2002;277:6413-6421.
6. Yamagata K, Nammo T, Moriwaki M, et al. Overexpression of dominant-negative mutant hepatocyte nuclear factor-1 alpha in pancreatic beta-cells causes abnormal islet architecture with decreased expression of E-cadherin, reduced beta-cell proliferation, and diabetes. Diabetes. 2002;51:114-123.
7. Wang H, Antinozzi PA, Hagenfeldt KA, et al. Molecular targets of a human HNF1 alpha mutation responsible for pancreatic beta-cell dysfunction. EMBO J. 2000;19:4257-4264.
8. Navas MA, Munoz-Elias EJ, Kim J, et al. Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q). Diabetes. 1999;48:1459-1465.
9. Taylor DG, Haubenwallner S, Leff T. Characterization of a dominant negative mutant form of the HNF-4 orphan receptor. Nucleic Acids Res. 1996;24:2930-2935.
10. Chakrabarti SK, Mirmira RG. Transcription factors direct the development and function of pancreatic beta cells. Trends Endocrinol Metab. 2003;14:78-84.
11. Edlund H. Pancreatic organogenesis-developmental mechanisms and implications for therapy. Nat Rev Genet. 2002;3:524-532.
12. Alonso CR. Hox proteins: sculpting body parts by activating localized cell death. Curr Biol. 2002;12:R776-778.
13. Duncan SA, Navas MA, Dufort D, et al. Regulation of a transcription factor network required for differentiation and metabolism. Science. 1998;281:692-695.
14. Shih DQ, Stoffel M. Dissecting the transcriptional network of pancreatic islets during development and differentiation. Proc Natl Acad Sci U S A. 2001;98:14189-14191.
15. Shih DQ, Screenan S, Munoz KN, et al. Loss of HNF-1alpha function in mice leads to abnormal expression of genes involved in pancreatic islet development and metabolism. Diabetes. 2001;50:2472-2480.
16. Brissova M, Shiota M, Nicholson WE, et al. Reduction in pancreatic transcription factor PDX-1 impairs glucose-stimulated insulin secretion. J Biol Chem. 2002;277:11225-11232.
17. +/- mice. J Clin Invest. 2003;111:1147-1160.
18. Pontoglio M, Sreenan S, Roe M, et al. Defective insulin secretion in hepatocyte nuclear factor 1alpha-deficient mice. J Clin Invest. 1998;101:2215-2222.
19. Tronche F, Yaniv M. HNF1, a homeoprotein member of the hepatic transcription regulatory network. Bioessays. 1992;14:579-587.
20. Haumaitre C, Barbacci E, Jenny M, et al. Lack of TCF2/vHNF1 in mice leads to pancreas agenesis. Proc Natl Acad Sci U S A. 2005;102:1490-1495.
21. Dhe-Paganon S, Duda K, Iwamoto M, et al. Crystal structure of the HNF4 alpha ligand binding domain in complex with endogenous fatty acid ligand. J Biol Chem. 2002;277:37973-37976.
22. Odom DT, Zizlsperger N, Gordon DB, et al. Control of pancreas and liver gene expression by HNF transcription factors. Science. 2004;303:1378-1381.
23. Wang H, Maechler P, Antinozzi PA, et al. Hepatocyte nuclear factor 4alpha regulates the expression of pancreatic beta-cell genes implicated in glucose metabolism and nutrient-induced insulin secretion. J Biol Chem. 2000;275:35953-35959.
24. Stoffel M, Duncan SA. The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism. Proc Natl Acad Sci U S A. 1997;94:13209-13214.
25. Shih DQ, Dansky HM, Fleisher M, et al. Genotype/phenotype relationships in HNF-4alpha/MODY1: haploinsufficiency is associated with reduced apolipoprotein (AII), apolipoprotein (CIII), lipoprotein(a), and triglyceride levels. Diabetes. 2000;49:832-837.
26. Glick E, Leshkowitz D, Walker MD. Transcription factor BETA2 acts cooperatively with E2A and PDX1 to activate the insulin gene promoter. J Biol Chem. 2000;275:2199-2204.
27. Moates JM, Nanda S, Cissell MA, et al. BETA2 activates transcription from the upstream glucokinase gene promoter in islet beta-cells and gut endocrine cells. Diabetes. 2003;52:403-408.
28. Dumonteil E, Laser B, Constant I, et al. Differential regulation of the glucagon and insulin I gene promoters by the basic helixloop-helix transcription factors E47 and BETA2. J Biol Chem. 1998;273:19945-19954.
29. Huang HP, Chu K, Nemoz-Gaillard E, et al. Neogenesis of beta-cells in adult BETA2/NeuroD-deficient mice. Mol Endocrinol. 2002;16:541-551.
30. McKinnon CM, Docherty K. Pancreatic duodenal homeobox-1, PDX-1, a major regulator of beta cell identity and function. Diabetologia. 2001;44:1203-1214.
31. Ahlgren U, Jonsson J, Jonsson L, et al. Beta-cell-specific inactivation of the mouse Ipf1/Pdx1 gene results in loss of the beta-cell phenotype and maturity onset diabetes. Genes Dev. 1998;12:1763-1768.
32. Johnson JD, Bernal-Mizrachi E, Alejandro EU, et al. Insulin protects islets from apoptosis via Pdx1 and specific changes in the human islet proteome. Proc Natl Acad Sci U S A. 2006;103:19575-19580.
33. Lee CS, Sund NJ, Vatamaniuk MZ, et al. Foxa2 controls Pdx1 gene expression in pancreatic beta-cells in vivo. Diabetes. 2002;51:2546-2551.
34. Myat MM, Andrew DJ. Fork head prevents apoptosis and promotes cell shape change during formation of the Drosophila salivary glands. Development. 2000;127:4217-4226.
35. Ueki K, Okada T, Hu J, et al. Total insulin and IGF-I resistance in pancreatic beta cells causes overt diabetes. Nat Genet. 2006;38:583-588.
36. Roth U, Curth K, Unterman TG, et al. The transcription factors HIF-1, HNF-4 and the coactivator p300 are involved in the insulin-regulated glucokinase gene expression via the phosphatidylinositol 3-kinase/protein kinase B pathway. J Biol Chem. 2004;279:2623-2631.
37. Otani K, Kulkarni RN, Baldwin AC, et al. Reduced beta-cell mass and altered glucose sensing impair insulin secretory function in betaIRKO mice. Am J Physiol Endocrinol Metab. 2004;286:E41-E49.
38. Kushner JA, Ye J, Schubert M, et al. Pdx1 restores beta cell function in Irs2 knockout mice. J Clin Invest. 2002;109:1193-1201.
39. Hennige AM, Burks DJ, Ozcan U, et al. Upregulation of insulin receptor substrate-2 in pancreatic beta cells prevents diabetes. J Clin Invest. 2003;112:1521-1532.
40. Gunton JE, Kulkarni RN, Yim S, et al. Loss of ARNT/HIF1beta mediates altered gene expression and pancreatic-islet dysfunction in human type 2 diabetes. Cell. 2005;122:337-349.
41. Dutta S, Bonner-Weir S, Montminy M, Wright C. Regulatory factor linked to late-onset diabetes? Nature. 1998;392:560.
42. Dukes ID, Sreenan S, Roe MW, et al. Defective pancreatic beta-cell glycolytic signaling in hepatocyte nuclear factor-1alpha-deficient mice. J Biol Chem. 1998;273:24457-24464.
43. Miura A, Yamagata K, Kakei M, et al. Hepatocyte nuclear factor-4alpha is essential for glucose-stimulated insulin secretion by pancreatic beta-cells. J Biol Chem. 2006;281:5246-5257.
44. Gupta RK, Vatamaniuk MZ, Lee CS, et al. The MODY1 gene HNF-4alpha regulates selected genes involved in insulin secretion. J Clin Invest. 2005;115:1006-1015.
45. Gauthier BR, Brun T, Sarret EJ, et al. Oligonucleotide microarray analysis reveals PDX1 as an essential regulator of mitochondrial metabolism in rat islets. J Biol Chem. 2004;279:31121-31130.
46. Matschinsky FM. Regulation of pancreatic beta-cell glucokinase: from basics to therapeutics. Diabetes. 2002;51(suppl 3):S394-S404.
47. Njolstad PR, Sagen JV, Bjorkhaug L, et al. Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway. Diabetes. 2003;52:2854-2860.
48. Sturis J, Kurland IJ, Byrne MM, et al. Compensation in pancreatic beta-cell function in subjects with glucokinase mutations. Diabetes. 1994;43:718-723.
49. Bonner-Weir S. Islet growth and development in the adult. J Mol Endocrinol. 2000;24:297-302.
50. Dor Y, Brown J, Martinez OI, et al. Adult pancreatic beta-cells are formed by self-duplication rather than stem-cell differentiation. Nature. 2004;429:41-46.
51. Pick A, Clark J, Kubstrup C, et al. Role of apoptosis in failure of beta-cell mass compensation for insulin resistance and beta-cell defects in the male Zucker diabetic fatty rat. Diabetes. 1998;47:358-364.
52. Butler AE, Janson J, Bonner-Weir S, et al. Beta-cell deficit and increased beta-cell apoptosis in humans with type 2 diabetes. Diabetes. 2003;52:102-110.
53. Gremlich S, Bonny C, Waeber G, et al. Fatty acids decrease IDX-1 expression in rat pancreatic islets and reduce GLUT2, glucokinase, insulin, and somatostatin levels. J Biol Chem. 1997;272:30261-30269.
54. Wu H, MacFarlane WM, Tadayyon M, et al. Insulin stimulates pancreatic-duodenal homoeobox factor-1 (PDX1) DNA-binding activity and insulin promoter activity in pancreatic beta cells. Biochem J. 1999;344(Pt 3):813-818.
55. Perfetti R, Zhou J, Doyle ME, et al. Glucagon-like peptide-1 induces cell proliferation and pancreatic-duodenum homeobox-1 expression and increases endocrine cell mass in the pancreas of old, glucose-intolerant rats. Endocrinology. 2000;141:4600-4605.
56. Li Y, Cao X, Li LX, et al. Beta-cell Pdx1 expression is essential for the glucoregulatory, proliferative, and cytoprotective actions of glucagon-like peptide-1. Diabetes. 2005;54:482-491.
57. Dutta S, Gannon M, Peers B, et al. PDX:PBX complexes are required for normal proliferation of pancreatic cells during development. Proc Natl Acad Sci U S A. 2001;98:1065-1070.
58. Yang Q, Yamagata K, Fukui K, et al. Hepatocyte nuclear factor-1alpha modulates pancreatic beta-cell growth by regulating the expression of insulin-like growth factor-1 in INS-1 cells. Diabetes. 2002;51:1785-1792.
59. Shimabukuro M, Zhou YT, Levi M, et al. Fatty acid-induced beta cell apoptosis: a link between obesity and diabetes. Proc Natl Acad Sci U S A. 1998;95:2498-2502.
60. Yamagata K. Regulation of pancreatic beta-cell function by the HNF transcription network: lessons from maturity-onset diabetes of the young (MODY). Endocr J. 2003;50:491-499.
61. Naya FJ, Huang HP, Qiu Y, et al. Diabetes, defective pancreatic morphogenesis, and abnormal enteroendocrine differentiation in BETA2/neuroD-deficient mice. Genes Dev. 1997;11:2323-2334.
62. Bulla GA, Givens E, Brown S, et al. A common regulatory locus affects both HNF4/HNF1alpha pathway activation and sensitivity to LPS-mediated apoptosis in rat hepatoma cells. J Cell Sci. 2001;114(Pt 6):1205-1212.
63. Pennesi ME, Cho JH, Yang Z, et al. BETA2/NeuroD1 null mice: a new model for transcription factor-dependent photoreceptor degeneration. J Neurosci. 2003;23:453-461.
64. Newmeyer DD, Ferguson-Miller S. Mitochondria: releasing power for life and unleashing the machineries of death. Cell. 2003;112:481-490.
65. Zhou YP, Pena JC, Roe MW, et al. Overexpression of Bcl-x(L) in beta-cells prevents cell death but impairs mitochondrial signal for insulin secretion. Am J Physiol Endocrinol Metab. 2000;278:E340-E351.
66. Danial NN, Gramm CF, Scorrano L, et al. BAD and glucokinase reside in a mitochondrial complex that integrates glycolysis and apoptosis. Nature. 2003;424:952-956.
67. Grimsby J, Sarabu R, Corbett WL, et al. Allosteric activators of glucokinase: potential role in diabetes therapy. Science. 2003;301:370-373.
68. Hertz R, Ben-Haim N, Petrescu AD, et al. Rescue of MODY-1 by agonist ligands of hepatocyte nuclear factor-4alpha. J Biol Chem. 2003;278:22578-22585.
69. Wideman RD, Yu IL, Webber TD, et al. Improving function and survival of pancreatic islets by endogenous production of glucagon-like peptide 1 (GLP-1). Proc Natl Acad Sci U S A. 2006;103:13468-13473.
70. Koizumi M, Doi R, Toyoda E, et al. Increased PDX-1 expression is associated with outcome in patients with pancreatic cancer. Surgery. 2003;134:260-266.
71. Kojima H, Fujimiya M, Matsumura K, et al. NeuroD-betacellulin gene therapy induces islet neogenesis in the liver and reverses diabetes in mice. Nat Med. 2003;9:596-603.
72. Hani EH, Stoffers DA, Chevre JC, et al. Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. J Clin Invest. 1999;104:R41-R48.
73. Macfarlane WM, Frayling TM, Ellard S, et al. Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. J Clin Invest. 1999;104:R33-R39.
74. Iwasaki N, Oda N, Ogata M, et al. Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM. Diabetes. 1997;46:1504-1508.
75. Hegele RA, Cao H, Harris SB, et al. The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree. J Clin Endocrinol Metab. 1999;84:1077-1082.