Genetic predisposition for type 1 diabetes mellitus - The role of endoplasmic reticulum stress in human disease etiopathogenesis

Journal of Medical Biochemistry

Volumn 29, Issue 3, 2010, Pages 139-149

  Stankov, Karmen ^a  

^a UNIVERSITY OF NOVI SAD   (Serbia)

Author keywords

diabetes mellitus; endoplasmic reticulum stress; genetic susceptibility

Indexed keywords

CHROMOSOME 4P; ENDOPLASMIC RETICULUM STRESS; FRAMESHIFT MUTATION; GENE LOCUS; GENE MAPPING; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; INSULIN RESISTANCE; NEOPLASM; PANCREAS ISLET BETA CELL; PATHOPHYSIOLOGY; PROTEIN FOLDING; REVIEW; WOLFRAM SYNDROME;

EID: 77955248678     PISSN: 14528258     EISSN: 14528266     Source Type: Journal    
DOI: 10.2478/v10011-010-0016-9     Document Type: Review

References (69)

1. Pino S, Kruger AJ, Bortell R. The role of innate immune pathways in type 1 diabetes pathogenesis. Current Opinion in Endocrinology, Diabetes & Obesity 2010, 17: 126-130
2. Hober D, Sauter P Pathogenesis of type 1 diabetes mellitus: interplay between enterovirus and host. Nat Rev Endocrinol 2010; 6 (15):279-289
3. Dib SA, Gomes MB. Etiopathogenesis of type 1 diabetes mellitus: prognostic factors for the evolution of residual β cell function. Diabetology & Metabolic Syndrome 2009;1: 25.
4. MacFarlane AJ, Strom A, Scott FW. Epigenetics: deciphering how environmental factors may modify autoimmune type 1 diabetes. Mamm Genome 2009; 20: 624-632
5. Čolak E, Majkić-Singh N. The effect of hyperglicemia and oxidative stress on the development and progress of vascular complications in type 2 diabetes. Journal of Medical Biochemistry 2009; 28: 63-71.
6. Rich SS, Concannon P Erlich H, Julier C, Morahan G, Todd JA. The Type 1 Diabetes Genetic Consortium. Ann NY Acad Sci 2006; 1079: 1-8.
7. Jahromi MM, Eisenbarth GS. Genetic determinants of type 1 diabetes across populations. Ann N Y Acad Sci 2006; 1079: 289-299
8. Craig ME, Hattersley A, Donaghue KC. Definition, epidemiology and classification of diabetes in children and adolescents. Pediatr Diabetes. 2009; 10: 3-12.
9. Harjutsalo V, Sjoberg L, Tuomilehto J. Time trends in incidence of type 1 diabetes in Finnish children: a cohort study. Lancet 2008: 371: 1777-1782
10. Green A, Patterson CC, on behalf of the EURODIAB TIGER Study Group. Trends in incidence of childhood onset diabetes in Europe 1989-1998. Diabetologia 2001; 44: B3-B8.
11. Samardžić M, Marinković J, Kocev N, Čurović N, Terzić N. Increasing incidence of childhood type 1 diabetes in Montenegro from 1997 to 2006. Pediatric Diabetes 2009. doi: 10.1111/j.1399-5448.2009.00617.
12. Institute of Public Health of Serbia «Dr Milan Jovanovic Batut. » 2008. Available from http://www.batut.org.rs.
13. Grant SFA, Hakonarson H, Schwartz S. Can the genetics of type 1 and type 2 diabetes shed light on the genetics of latent autoimmune diabetes in adults? Endocrine Reviews 2010; 31 (2): 183-193.
14. Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nature Genetics 2007; 39: 857-864
15. Kim I, Xu W, Reed JC. Cell death and endoplasmic reticulum stress: disease relevance and therapeutic opportunities. Nat Rev Drug Disc 2008; 7: 1013-1030
16. Giorgi C, De Stefani D, Bononi A, Rizzuto R, Pinton P Structural and functional link between the mitochondrial network and the endoplasmic reticulum. Int J Biochem Cell Biol 2009; 41: 1817-1827.
17. Wang G, Yang ZQ, Zhang K. Endoplasmic reticulum stress response in cancer: molecular mechanism and therapeutic potential. Am J Transl Res 2010; 2: 65-74.
18. Kaneto H, Nakatani Y, Kawamori D, Miyatsuka T, Mat- suoka TA, Matsuhisa M, Yamasaki Y. Role of oxidative stress, endoplasmic reticulum stress, and c-Jun N- terminal kinase in pancreatic beta-cell dysfunction and insulin resistance. Int J Biochem Cell Biol 2006; 38: 782-793
19. Van der Kallen CJ, Van Greevenbroek MM, Stehouwer CD, Schalkwijk CG. Endoplasmic reticulum stress-induced apoptosis in the development of diabetes: is there a role for adipose tissue and liver? Apoptosis 2009;14: 1424-1434.
20. Hotamisligil GS. Endoplasmic reticulum stress and the inflammatory basis of metabolic disease. Cell 2010; 140: 900-917
21. Hartley T, Brumell J, Volchuk A. Emerging roles for the ubiquitin-proteasome system and autophagy in pancreatic β-cells. Am J Physiol Endocrinol Metab 2009; 296: 1-10.
22. Glick D, Barth S, Macleod KF. Autophagy: cellular and molecular mechanisms. J Pathol 2010; 221: 3-12.
23. Hosoi T, Ozawa K. Endoplasmic reticulum stress in disease: mechanisms and therapeutic opportunities. Clinical Science 2010; 118: 19-29.
24. Zhang K. Integration of ER stress, oxidative stress and the inflammatory response in health and disease. Int J Clin Exp Med 2010; 3: 33-40.
25. Stolz A, Wolf DH. Endoplasmic reticulum associated protein degradation: A chaperone assisted journey to hell. Biochimica et Biophysica 2010; 1803: 694-705.
26. McGuckin MA, Eri RD, Das I, Lourie R, Florin TH. ER stress and the unfolded protein response in intestinal inflammation. Am J Physiol Gastrointest Liver Physiol 2010; 298: G820-G832.
27. Lin JH, Walter P Yen BTS. Endoplasmic reticulum stress in disease pathogenesis. Annu Rev Pathol Mech Dis 2008; 3: 399-425.
28. Aridor M. Visiting the ER: the endoplasmic reticulum as a target for therapeutics in traffic related diseases. Adv Drug Deliv Rev 2007; 59: 759-781
29. Salminen A, Kauppinen A, Suuronen T, Kaarniranta K, Ojala J. ER stress in Alzheimer's disease: a novel neuronal trigger for inflammation and Alzheimer's pathology. J Neuroinflammation 2009; 6: 41.
30. Mucke L. Alzheimer's disease. Nature 2009; 461: 895-897
31. Katayama T, Imaizumi K, Manabe T, Hitomi J, Kudo T, Tohyama M, et al. Induction of neuronal death by ER stress in Alzheimer's disease. J Chem Neuroanat 2004; 28: 67-78. (Pubitemid 39198955)
32. Kaufman RJ. Orchestrating the unfolded protein response in health and disease. J Clin Invest 2002; 110:1389-1398
33. Zhang K, Kaufman RJ. The unfolded protein response. A stress signaling pathway critical for health and disease. Neurology 2006; 66: S102-S109.
34. Zhou J, Austin RC. Contributions of hyperhomocyste- inemia to atherosclerosis: Causal relationship and potential mechanisms. Biofactors 2009; 35: 120-129
35. Wang G, Yang ZQ, Zhang K. Endoplasmic reticulum stress response in cancer: molecular mechanism and therapeutic potential. Am J Transl Res 2010; 2: 65-74.
36. Lee AS. GRP78 induction in cancer: therapeutic and prognostic implications. Cancer Res 2007; 67: 3496-3499
37. Luo J, Solimini NL, Elledge SJ. Principles of cancer therapy: oncogene and non-oncogene addictions. Cell 2009; 136: 823-837
38. Healy SJ, Gorman AM, Mousavi-Shafaei P, Gupta S, Samali A. Targeting the endoplasmic reticulum stress response as an anticancer strategy. Eur J Pharmacol 2009; 625: 234-236
39. Boelens J, Lust S, Offner F, Bracke ME, Vanhoecke BW. The endoplasmic reticulum: A target for new anti- cancer drugs. In Vivo 2007; 21: 215-226
40. Tonnesen MF. Inhibition of nuclear factor-kB or bax prevents endoplasmic reticulum stress, but not nitric oxide-mediated apoptosis in INS-1E cells. Endocrinology 2009; 150: 4094-4103
41. Rutkowski DT, Kaufman RJ. A trip to the ER: coping with stress. Trends Cell Biol 2004; 14: 20-28
42. Zhang D, Armstrong JS. Bax and the mitochondrial permeability transition cooperate in the release of cyto- chrome c during endoplasmic reticulum-stress-induced apoptosis. Cell Death Differ 2007; 14: 703-715
43. Allen JR, Nguyen LX, Sargent KE, Lipson KL, Hackett A, Urano F, et al. High ER stress in beta-cells stimulates intracellular degradation of misfolded insulin. Biochem Biophys Res Commun. 2004; 324: 166-170
44. Weber M, Baričević-Jones I, Masnikosa R, Filimonović D, Miković Ž, Nedić O. Receptors and binding proteins for insulin-like growth factors in the placenta of healthy mothers and mothers with insulin-dependent diabetes mellitus. Journal of Medical Biochemistry 2009; 28: 30-35.
45. Harding HP, Zeng H, Zhang Y, Jungries R, Chung P, Ron D, et al. Diabetes mellitus and exocrine pancreatic dysfunction in perk-/- mice reveals a role for transla- tional control in secretory cell survival. Mol Cell 2001; 7: 1153-1163
46. Zhang W, Feng D, Li Y, Iida K, McGrath B, Cavener DR. PERK EIF2AK3 control of pancreatic beta cell differentiation and proliferation is required for postnatal glucose homeostasis. Cell Metab 2006; 4: 491-497
47. Back SH, Scheuner D, Han J, Song B, Ribick M, Wang J, et al. Translation attenuation through eIF2alpha phosphorylation prevents oxidative stress and maintains the differentiated state in beta cells. Cell Metab 2009; 10: 13-26.
48. Ladiges WC, Knoblaugh SE, Morton JF, Korth MJ, Sopher BL, Baskin CR, et al. Pancreatic beta-cell failure and diabetes in mice with a deletion mutation of the endoplasmic reticulum molecular chaperone gene P58IPK. Diabetes 2005; 54: 1074-1081
49. Ozbek MN, Senee V, Aydemir S, Kotan LD, Mungan NO, Julier C. Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature. Pediatr Diabetes 2010; 11: 279-285.
50. Fonseca SG. WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta cells. J Biol Chem 2005; 280: 39609-39615
51. Araki E, Oyadomari S, Mori M. Endoplasmic reticulum stress and diabetes mellitus. Intern Med 2003; 42: 7-14.
52. Yamada T, Ishihara H, Tamura A, Takahashi R, Takei D, Oka Y, et al. WFS1-deficiency increases endoplasmic reticulum stress, impairs cell cycle progression and triggers the apoptotic pathway specifically in pancreatic beta-cells. Hum Mol Genet 2006; 15: 1600-1609
53. Thameem F Farook VS, Bogardus C, Prochazka M. Association of amino acid variants in the activating transcription factor 6 gene (ATF6) on 1q21-q23 with type 2 diabetes in Pima Indians. Diabetes 2006; 55: 839-842
54. Ozcan U, Yilmaz E, Ozcan L, Furuhashi M, Vaillancourt E, Hotamisligil GS, et al. Chemical chaperones reduce ER stress and restore glucose homeostasis in a mouse model of type 2 diabetes. Science 2006; 313: 1137-1140
55. Ota T, Gayet C, Ginsberg HN. Inhibition of apolipo- protein B100 secretion by lipid-induced hepatic endoplasmic reticulum stress in rodents. J Clin Invest 2008; 118: 316-332
56. Huber A, Menconi F, Corathers S, Jacobson EM, Tomer Y. Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms. Endocrine Rev 2008; 29: 697-725.
57. Johnson JD, Luciani DS. Mechanisms of pancreatic beta-cell apoptosis in diabetes and its therapies. Adv Exp Med Biol 2010; 654: 447-462
58. Kumar S. Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists. Pediatric Diabetes 2010; 11: 28-37.
59. Ganie MA, Bhat D. Current developments in Wolfram syndrome. Journal of Pediatric Endocrinology & Metabolism 2009; 22: 3-10.
60. Polymeropoulos MH, Swift RG, Swift M. Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Nat Genet 1994: 8: 95-97
61. Khanim F, Kirk J, Latif F, Barrett TG. WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. Hum Mutat 2001; 17: 357-367
62. Fonseca SG, Ishigaki S, Oslowski CM, Lu S, Lipson KL, Urano F, et al. Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells. J Clin Invest 2010; 120: 744-755
63. Takei D, Ishihara H, Yamaguchi S. WFS1 protein modulates the free Ca(2 +) concentration in the endoplasmic reticulum. FEBS Lett 2006; 580: 5635-5640
64. Hofmann S, Philbrook C, Gerbitz KD, Bauer MF Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product. Hum Mol Genet 2003; 12: 2003-2012
65. Fawcett KA, Wheeler E, Morris AP, Ricketts SL, Hallmans G, Barroso I, et al. Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk. Diabetes 2010; 59: 741-746
66. Medlej R, Wasson J, Baz P Azar S, Salti I, Halaby G, et al. Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population. J Clin Endocrinol Metab 2004; 89: 1656-1661
67. El-Shanti H, Lidral AC, Jarrah N, Druhan L, Ajlouni K. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. Am J Hum Genet 2000; 66: 1229-1236
68. Zalloua PA, Azar ST, Delepine M, Makhoul NJ, Stankov K, Julier C, et al. WFS1 mutations are frequent mono- genic causes of juvenile-onset diabetes mellitus in Lebanon. Hum Mol Genet 2008; 17: 4012-4021
69. Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab 2008; 4: 200-213.