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Expert Review of Molecular Diagnostics Volume 3, 2003 - Issue 6
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Review

Application of genomics and proteomics in Type 1 diabetes pathogenesis research

Thomas Sparre Steno Diabetes Center, Niels Steensensvej 2, DK-2820 Gentofte, Denmark. [email protected]
,
Regine Bergholdt Steno Diabetes Center, Niels Steensensvej 2, DK-2820 Gentofte, Denmark. [email protected]
,
Jørn Nerup Steno Diabetes Center, Niels Steensensvej 2, DK-2820 Gentofte, Denmark. [email protected]
&
Flemming Pociot Steno Diabetes Center, Niels Steensensvej 2, DK-2820 Gentofte, Denmark. [email protected]
Pages 743-757 | Published online: 09 Jan 2014

References

  • Patterson SD, Aebersold RII. Proteomics: the first decade and beyond. Nature Genet. 33,311–323 (2003).
  • •Reviews proteome analysis and systems biology
  • WHO. Definition, diagnosis and classification of diabetes mellitus and its complications: report of a WHO consultation. Part I: Diagnosis and Classification of Diabetes Mellitus. World Health Organization, Geneva, 1–59 (1999).
  • Gepts W Pathologic anatomy of the pancreas in juvenile diabetes mellitus. Diabetes 14,619–633 (1965).
  • Lorenzen T, Pociot F, Hougaard P, Nerup J. Long-term risk of IDDM in first-degree relatives of patients with IDDM. Diabetologra 37,321–327 (1994).
  • Molbak AG, Christau B, Mamer B, Borch-Johnsen K, Nerup J. Incidence of insulin-dependent diabetes mellitus in age groups over 30 years in Denmark. Diabet. Med. 11, 650–655 (1994).
  • Karvonen M, Viik-Kajander M, Moltchanova E, Libman I, LaPorte R, Tuomilehto J. Incidence of childhood type 1 diabetes worldwide. Diabetes Care 23, 1516–1526 (2000).
  • Zimmet P Globalization, coca-colonization and the chronic disease epidemic: can the Doomsday scenario be averted? j Intern Med. 247, 301–310 (2000).
  • Zimmet P, Alberti KGMM, Shaw J. Global and societal implications of the diabetes epidemic. Nature 414, 782–787 (2001). toSvensson J, Carstensen B, Molbak A eta]. Increased risk of childhood Type 1 diabetes in children born after 1985. Diabetes Cam
  • ,2197-2201(2002). iiDrivsholm T, Ibsen H, Schroll M, Davidsen M, Borch-Johnsen K. Increasing prevalence of diabetes mellitus and impaired glucose tolerance among 60-year-old Danes. Diabet. Med. 18, 126–132 (2001).
  • Nerup J, Mandrup-Poulsen T, Molvig J, Helqvist S, Wogensen L, Egeberg J. Mechanisms of pancreatic beta-cell destruction in Type I diabetes. Diabetes Cam 11 (Suppl. 1), 16–23 (1988).
  • Nerup J, Mandrup-Poulsen T, Helqvist S etal On the pathogenesis of IDDM. Diabetologia 37\(Suppl. 2), S82—S89 (1994).
  • ••Overview of the Copenhagen model.
  • Bergholdt R, Heding P, Nielsen K et al Type 1 diabetes mellitus: an inflammatory disease of the islet. In: Type I Diabetes: Cellular; Molecular and Clinical Immunology Eisenbarth GS (Ed.), Barbara Davis Center for Childhood Diabetes, Denver, CO, USA, Chapter 5 (2003)
  • ••Updated view of the Copenhagen model.
  • Eizirik DL, Flodström M, Karlsen AE, Welsh N. The harmony of the spheres: inducible nitric oxide synthase and related genes in pancreatic beta cells. Diabetologra 39,875–890 (1996).
  • Mandrup-Poulsen T The role of interleukin-1 in the pathogenesis of insulin-dependent diabetes mellitus. Diabetologia 39,1005–1029 (1996).
  • ••Overview of effects of interleukin (10–10 on 0-cells.
  • Andersen HU, Fey SJ, Mose Larsen P eta]. Interleukin-lbeta induced changes in the protein expression of rat islets: a computerized database. Electrophoresis 18, 2091–2103 (1997).
  • John N, Andersen H, Fey S eta]. Cytokine or chemically-derived nitric oxide alters the expression of proteins detected by two-dimensional gel electrophoresis in neonatal rat islets of Langerhans. Diabetes 49, 1819–1829 (2000).
  • Mose Larsen P, Fey SJ, Larsen MR etal Proteome analysis of IL-1I3 induced changes in protein expression in rat islets of Langerhans. Diabetes50, 1056–1063 (2001).
  • ••Mass spectrometry (MS) analysis of IL-10-induced proteins in Wistar Furth rat islets.
  • Benhamou PY, Moriscot C, Richard MJ etal Adenovirus-mediated catalase gene-transfer reduces oxidant stress in human, porcine and rat pancreatic islets. Diabetologra 41, 1093–1100 (1998).
  • Lortz S, Tiedge M, Nachtwey T, Karlsen AE, Nerup J, Lenzen S. Protection of insulin-producing RINm5F cells against cytokine-mediated toxicity through overexpression of anti-oxidant enzymes. Diabetes 49, 1123–1130 (2000).
  • Bertera S, Crawford ML, Alexander AM etal Gene transfer of manganese superoxide dismutase extends islet graft function in a mouse model of autoimmune diabetes. Diabetes 52, 387–393 (2003).
  • Lortz S, Tiedge M. Sequential inactivation of reactive oxygen species by combined overexpression of SOD isoforms and catalase in insulin-producing cells. Free Raclin Biol. Med. 34, 683–688 (2003).
  • Karvonen M, Tuomilehto J, Libman I, LaPorte R. A review of the recent epidemiological data on the worldwide incidence of type 1 (insulin-dependent) diabetes mellitus. World Health Organization DIAMOND Project Group. Diabetologia 36,883–892 (1993).
  • Davies JL, Kawaguchi Y, Bennett ST et al A genome-wide search for human type 1 diabetes susceptibility genes. Nature 371, 130–136 (1994).
  • Hashimoto L, Habita C, Beressi JP eta]. Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome 1 lq. Nature 371,161–164 (1994).
  • Pociot F, McDermott MF. Genetics of type 1 diabetes mellitus. Genes Immun. 3, 235–249 (2002).
  • ••Comprehensive review of Type 1 diabetes(T1D) genetics.
  • Cox NJ, Wapelhorst B, Morrison VA eta]. Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families. Am. Hum. Genet. 69, 820–830 (2001).
  • •The recent US/UK genome scan.
  • Nerup J, Pociot E European Consortium for IDDM Genome Studies. A genome-wide scan for type 1 diabetes susceptibility in Scandinavian families: identification of new loci with evidence of interactions. Am. Hum. Genet. 69,1301-1313 (2001).
  • •The recent Scandinavian genome scan.
  • Hugot JP, Chamaillard M, Zouali H et al Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411,599–603 (2001).
  • Ogura Y, Bonen DK, Inohara N eta]. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411,603–606 (2001).
  • Van-Eerdewegh P, Little RD, Dupuis J eta]. Association of the ADAIVI33 gene with asthma and bronchial hyper-responsiveness. Nature 418, 426–430 (2002).
  • Risch NJ. Searching for genetic determinants in the new millennium. Nature 405,847–856 (2000).
  • Gabriel SB, Schaffner SF, Nguyen H etal The structure of haplotype blocks in the human genome. Science 296,2225–2229 (2002).
  • •An important description of the structure and use of haplotype blocks.
  • Johnson GCL, Esposito L, Barratt BJ etal Haplotype tagging for the identification of common disease genes. Nature Genet. 29, 233–237 (2001).
  • •Important description of the new method of haplotype tagging.
  • Cordell HJ, Todd JA, Bennett ST, Kawaguchi Y, Farrall M. Two-locus maximum lod score analysis of a multifactorial trait: joint consideration of IDDM2 and IDDM4 with IDDM1 in type 1 diabetes. Am.j Hum. Genet. 57, 920–934 (1995).
  • Mein CA, Esposito L, Dunn MG etal A search for type 1 diabetes susceptibility genes in families from the United Kingdom. Nature Genet. 19,297–300 (1998).
  • Wilkins MR, Pasquali C, Appel RD etal From proteins to proteomes: large scale protein identification by two-dimensional electrophoresis and amino acid analysis. Biotechnology14,61–65 (1996).
  • •Definition of proteome analysis.
  • Jensen ON, Larsen MR, Roepstorff Mass spectrometric identification and microcharacterization of proteins from electrophoretic gels: strategies and applications. Pmtein Struct. Funct. Genet. 33,74–89 (1998).
  • Karlsen AE, Sparre T, Nielsen K, Nerup J, Pociot E Proteome analysis: a novel approach to understand the pathogenesis of Type 1 diabetes mellitus. Dis. Markers 17, 205–216 (2001).
  • Sparre T, Nielsen K, Mose Larsen P etal Proteome analysis used in the discovery of molecular mechanisms involved in the pathogenesis of type 1 diabetes mellitus. Proc. Swiss Proteomics Soc. Funct. Proteomics (2001) (Abstract 0–9).
  • Pociot F, Karlsen AE. Combined genome and proteome approach to identify new susceptibility genes. Am j Merl Genet. 115, 55–60 (2002).
  • Lahm HW, Langen H. Mass spectrometry: a tool for the identification of proteins separated by gels. Electrophoresis 21,2105–2114 (2000).
  • Anderson L, Seilhamer J. A comparison of selected mRNA and protein abundances in human liver. Electrophoresis 18,533–537 (1997).
  • Gygi SP, Rochon Y, Franza BR, Aebersold R. Correlation between protein and mRNA abundance in yeast. Mal Cell. Biol. 19, 1720–1730 (1999).
  • Graveley BR. Alternative splicing: Increasing diversity in the proteomic world. Trends Genet. 17,100–107 (2001).
  • Ullrich B, Ushkaryov YA, Südhof TC. Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons. Neumn 14,497–507 (1995).
  • Gerling IC, Solomon SS, Bryer-Ash M. Genomes, transcriptomes and proteomes: molecular medicine and its impact on medical practice. Arch. Int. Merl 163, 190–198 (2003).
  • Sparre T, Reusens B, Cherif H etal Intrauterine programming of fetal islet gene expression in rats: effects of maternal protein restriction during gestation revealed by proteome analysis. Diabetologia (2003) (In Press).
  • Nicolls MR, D'Antonio JM, Hutton JC, Gill RG, Czwornog JL, Duncan MW. Proteomics as a tool for discovery: proteins implicated in Alzheimer's disease are highly expressed in normal pancreatic islets. Pmteome Res. 2,199–205 (2003).
  • Sparre T, Christensen UB, Larsen PM etal IL-13 induced protein changes in diabetes Prone BB rat islets of Langerhans identified by proteome analysis. Diabetologia 45, 1550–1561 (2002).
  • ••MS analysis of IL-113-induced proteins indiabetes-prone biobreeding rat islets.
  • Sanchez JC, Converset V, Nolan A eta]. Effect of rosiglitazone on the differential expression of diabetes-associated proteins in pancreatic islets of C57131/6 lepilep mice. Mal Cell. Proteomicsl, 509–516 (2002).
  • Sanchez JC, Chiappe D, Converset V etal The mouse SWISS-2D PAGE database: a tool for proteomics study of diabetes and obesity. Proteomics 1, 136–163 (2001).
  • Christensen UB, Larsen PM, Fey SJ etal Islet protein expression changes during diabetes development in islet syngrafts in BB-DP rats and during rejection of BB-DP islet allografts. Autoirmnunity 32,1–15 (2000).
  • Andersen HU, Larsen PM, Fey SJ, Karlsen AE, Mandrup-Poulsen T, Nerup J. Two-dimensional gel electrophoresis of rat islet proteins. Interleukin 1 beta-induced changes in protein expression are reduced by L-arginine depletion and nicotinamide. Diabetes 44, 400–407 (1995).
  • Collins H, Najafi H, Buettger C, Rombeau J, Settle RG, Matschinsky FM. Identification of glucose response proteins in two biological models of beta-cell adaptation to chronic high glucose exposure. j Biol. Chem. 267,1357–1366 (1992).
  • Collins HW, Buettger C, Matschinsky High-resolution two-dimensional polyacrylamide gel electrophoresis reveals a glucose-response protein of 65 kDa in pancreatic islet cells. Proc. Natl Acad. Sci. 87,5494-5498 (1990). 755
  • Regazzi R, Vallar L, Ullrich S et al Characterization of small-molecular-mass guanine-nucleotide-binding regulatory proteins in insulin-secreting cells and PC12 cells. Eur j Biochem. 208,729–737 (1992).
  • Escurat M, Djabali K, Huc C eta]. Origin of the beta cells of the islets of Langerhans is further questioned by the expression of neuronal intermediate filament proteins, peripherin and NF-L, in the rat insulinoma RIN5F cell line. Dev. Neurosci. 13,424-432 (1991).
  • Guest PC, Bailyes EM, Rutherford NG, Hutton JC. Insulin secretory granule biogenesis. Co-ordinate regulation of the biosynthesis of the majority of constituent proteins. Biochem. 274(Pt 1), 73–78 (1991).
  • Welsh N, Welsh M, Lindquist S, Eizirik DL, Bendtzen K, Sandler S. Interleukin-1 beta increases the biosynthesis of the heat shock protein hsp70 and selectively decreases the biosynthesis of five proteins in rat pancreatic islets. Autoimmunity9,33–40 (1991).
  • Hughes JH, Colca JR, Easom RA, Turk J, McDaniel ML. Interleukin 1 inhibits insulin secretion from isolated rat pancreatic islets by a process that requires gene transcription and mRNA translation. Gun. Invest. 86,856-863 (1990).
  • Nepom BS, Schwarz D, Palmer JP, Nepom GT. Transcomplementation of HLA genes in IDDM. HLA-DQ alpha-and beta-chains produce hybrid molecules in DR3/4 heterozygotes. Diabetes 36, 114–117 (1987).
  • Vischer U, Blondel B, Wollheim CB, Höppner W, Seitz HJ, Iynedjian PB. Hexokinase isoenzymes of RIN-m5F insulinoma cells. Expression of glucokinase gene in insulin-producing cells. Biochem. 241,249-255 (1987).
  • Iynedjian PB, Möbius G, Seitz HJ, Wollheim CB, Renold AE. Tissue-specific expression of glucokinase: identification of the gene product in liver and pancreatic islets. Proc. Natl Acad. Sci. 83,1998–2001 (1986).
  • Chatterjee NK, Haley TM, Nejman C. Functional alterations in pancreatic beta cells as a factor in virus-induced hyperglycemia in mice.1 Biol. Chem. 260, 12786–12791 (1985).
  • Akerblom HK, Vaarala 0, Hyoty H, llonen J, Knip M. Environmental factors in the etiology of type 1 diabetes. Am. j Merl Genet. 115,18-29 (2002).
  • •Comprehensive review of environmental involvement in T1D.
  • Jun HS, Yoon JW. A new took at viruses in type 1 diabetes. Diabetes Metab. Res. Rev. 19,8-31 (2003).
  • •Role of virus infections in T1D pathogenesis.
  • Barker DJ. The intrauterine origins of cardiovascular and obstructive lung disease in adult life. The Marc Daniels Lecture 1990.1 R. Coll Physicians Lond 25, 129–133 (1991).
  • Hales CN, Barker DJ. Type 2 (non-insulin- dependent) diabetes mellitus: the thrifty phenotype hypothesis. Diabetologia 35, 595–601 (1992).
  • Martyn CN, Gale CR, Jespersen S, Sherriff SB. Impaired fetal growth and atherosclerosis of carotid and peripheral arteries. Lancet352,173–178 (1998).
  • Simmons RA, Templeton LJ, Gertz SJ. Intrauterine growth retardation leads to the development of type 2 diabetes in the rat. Diabetes50, 2279–2286 (2001).
  • Snoeck A, Remade C, Reusens B, Hoet JJ. Effect of a low protein diet during pregnancy on the fetal rat endocrine pancreas. Biol. Neonate 57,107–118 (1990).
  • Petrik J, Reusens B, Arany E et al A low protein diet alters the balance of islet cell replication and apoptosis in the fetal and neonatal rat and is associated with a reduced pancreatic expression of insulin-like growth factor-II. Endocrinology140, 4861–4873 (1999).
  • Merezak S, Hardikar AA, Yajnik CS, Remade C, Reusens B. Intrauterine low Protein diet increases fetal beta-cell sensitivity to NO and IL-1 beta: the protective role of taurine. j Endocrinol 171,299–308 (2001).
  • Dahri S, Snoeck A, Reusens-Billen B, Remade C, Hoet JJ. Islet function in offspring of mothers on low-protein diet during gestation. Diabetes 40 (Suppl. 2), 115–120 (1991).
  • Crowther RA, Harrison SC. Macromolecular assemblages: editorial overview. CUI7: Opin. Struct. Biol. 11, 141–143 (2001).
  • Vladutiu GD. Heterozygosity: an expanding role in proteomics. Mal Genet. Metab. 74,51–63 (2001).
  • •Description of heterozygosity in proteomics.
  • Stride A, Hattersley AT Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Ann. Med. 34, 207–216 (2002).
  • Inoue H, Tanizawa Y, Wasson J etal A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nature Genet. 20,143–148 (1998).
  • Delepine M, Nicolino M, Barrett T, Golamaully M, Lathrop GM, Julier C. EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott—Rallison syndrome. Nature Genet. 25,406–409 (2000).
  • Strohman R. Epigenesis: the missing beat in biotechnology? Biotechnology12,156–164 (1994).
  • McLaren A. Too late for the midwife toad: stress, variability and Hsp90. Trends Genet. 15,169–171 (1999).
  • Queitsch C, Sangster TA, Lindquist S. Hsp90 as a capacitor of phenotypic variation. Nature 417,618–624 (2002).
  • Rossini AA, Handler ES, Mordes JP, Greiner DL. Animal models of human disease. Human autoimmune diabetes mellitus: lessons from BB rats and NOD mice — Caveat emptor. Clin. Immunol Immunopathol 74,2–9 (1995).
  • Delovitch TL, Singh B. The nonobese diabetic mouse as a model of autoimmune diabetes: immune dysregulation gets the NOD. Immunity7,727–738 (1997).
  • Bone AJ. Animal models of Type I diabetes. Curr Opin. Oncol Endocr: Metab. Invest. Drugs2, 192–200 (2000).
  • Mordes JP, Borten R, Groen H, Geuberski D, Rossini AA, Greiner DL. Autoimmune diabetes mellitus in the BB rat. In: Frontiers in Animal Diabetes Research, Volume 2. Sima AA, Shafrir E (Eds), Harwood Academic Publishers, London, UK, 1–41 (2001).
  • Karlsen AE, Pavlovic D, Nielsen K eta]. Interferon-gamma induces interleukin-1 converting enzyme expression in pancreatic islets by an interferon regulatory factor- 1-dependent mechanism. j Gun. Endocr: Metabol 85,830-836(2000).
  • Eizirik DL, Mandrup-Poulsen T A choice of death — the signal transduction of immune-mediated beta-cell apoptosis. Diabetologia 44,2115–2133 (2001).
  • ••Review of signal transduction in 0-cells.
  • Rieneck K, Bovin LF, Josefsen K, Buschard K, Svenson M, Bendtzen K. Massive parallel gene expression profiling of RINm5F pancreatic islet I3-cells stimulated with interleukin-1I3. APMIS108,855–872 (2000).
  • ••One of the first microarray studies ininsulin-producing cells.
  • Cardozo AK, Kruhoffer M, Leeman R, Orntoft T, Eizirik DL. Identification of novel cytokine induced genes in pancreatic I3-cells by high density oligonucleotide arrays. Diabetes 50,909–920 (2001).
  • ••One of the first microarray studies ininsulin-producing cells.
  • Walter S, Buchner J. Molecular chaperones — cellular machines for protein folding. Angew Chem. Int. Edit. 41,1098–1113 (2002).
  • Oyadomari S, Araki E, Mori M. Endoplasmic reticulum stress-mediated apoptosis in pancreatic beta-cells. Apoptosis 7,335–345 (2002).
  • Klose J, Kobalz U. Two-dimensional electrophoresis of proteins: an updated protocol and implications for a functional analysis of the genome. Electrophoresis 16, 1034–1059 (1995).
  • Freiesleben De Blasio B, Bak P, Pociot F, Karlsen AE, Nerup J. Onset of type 1 diabetes: a dynamical instability. Diabetes 48,1677–1685 (1999).
  • Christensen U, Sparre T, Cooke A, Andersen H, Mandrup-Poulsen T, Nerup J. Syngeneic islet transplantation in prediabetic BB-DP rats: a synchronized model for studying beta-cell destruction during the development of IDDM. Autoimmunity28, 91–107 (1998).
  • Sparre T, Christensen UB, Larsen PM eta]. Protein changes induced by IL- lbeta in islets of Langerhans in vitro followed in vivo during development of diabetes in diabetes prone BB rats. Mal Cell. Proteomicsl, (2002) (Abstract 732).
  • Ueda H, Howson JM, Esposito L etal Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 423,506–511 (2003).
  • Kristiansen OP, Larsen ZM, Pociot E CTLA-4 in autoimmune diseases: a general susceptibility gene to autoimmunity? Genes Immun. 1,170–184 (2000).
  • O'Farrell PH. High resolution two-dimensional electrophoresis of proteins. .1. Biol. Chem. 250,4007-4021 (1975).
  • Baltimore D. Our genome unveiled. Natum 409,814–816 (2001).
  • Service RE Gold rush — high-speed biologists search for gold in proteins. Science 294,2074–2077 (2001).
  • Hames BD. Gel Dectrophomsis of Proteins. Hames BD (Ed.), Oxford University Press, Oxford, UK (1998).
  • Kopchick JJ, List EO, Kohn DT, Keidan GMO, Qiu L, Okada S. Perspective: proteomics — see 'spots' run. Endocrinology 143,1990–1994 (2002).
  • Jung E, Heller M, Sanchez J, Hochstrasser DF. Proteomics meets cell biology: the establishment of subcellular proteomes. Electrophoresis 21,3369–3377 (2000).
  • Huber LA, Pfaller K, Vietor I. Organelle proteomics: implications for subcellular fractionation in proteomics. Circul Res. 92, 962–968 (2003).
  • Taylor SW Fahy E, Ghosh SS. Global organellar proteomics. 21,82–88 (2003).
  • Aebersold R, Mann M. Mass spectrometry-based proteomics. Nature 422,198–207 (2003).
  • Hanash S. Disease proteomics. Nature 422, 226–232 (2003).
  • •Review of the use of proteomics in disease pathogenesis. iii Tyers M, Mann M. From genomics to proteomics. Nature 422,193-197 (2003).
  • Venter JC, Adams MD, Myers EW et al. The sequence of the human genome. Science291, 1304–1351 (2001).
  • International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 409, 860–921 (2001).

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