Genetic aspects of tropical calcific pancreatitis

Reviews in Endocrine and Metabolic Disorders

Volumn 9, Issue 3, 2008, Pages 213-226

  Witt, Heiko ^a,b   Bhatia, Eesh ^c  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Chronic pancreatitis; CTRC; Genetics; SPINK1; Tropical calcific pancreatitis

Indexed keywords

APROTININ; CALCIUM SENSING RECEPTOR; CATHEPSIN B; CHYMOTRYPSINOGEN; CHYMOTRYPSINOGEN C; DIPEPTIDYL CARBOXYPEPTIDASE; LITHOSTATHINE; MAJOR HISTOCOMPATIBILITY ANTIGEN; SERINE PROTEASE INHIBITOR KAZAL TYPE 1; SERINE PROTEINASE INHIBITOR; TRANSMEMBRANE CONDUCTANCE REGULATOR; TRYPSIN INHIBITOR; TRYPSINOGEN; UNCLASSIFIED DRUG;

ABDOMINAL PAIN; CHRONIC PANCREATITIS; CLINICAL FEATURE; DIABETES MELLITUS; ENVIRONMENTAL FACTOR; FOOD INTAKE; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC RISK; HEREDITY; HUMAN; MAJOR HISTOCOMPATIBILITY COMPLEX; MORBIDITY; NUTRITIONAL DEFICIENCY; PATHOGENESIS; PREVALENCE; REVIEW; TROPICAL CALCIFIC PANCREATITIS;

CALCINOSIS; HUMANS; MODELS, BIOLOGICAL; PANCREATITIS, CHRONIC; SIGNAL TRANSDUCTION; TROPICAL CLIMATE; TRYPSINOGEN;

EID: 49349104469     PISSN: 13899155     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11154-008-9088-y     Document Type: Review

References (102)

1. A Abu-Bakare R Taylor GV Gill KGMM Alberti 1986 Tropical or malnutrition-related diabetes: a real syndrome? Lancet i 1135 1138
2. KK Barman G Premlatha V Mohan 2003 Tropical chronic pancreatitis Postgrad Med J. 79 606 615
3. Viswanathan M. Pancreatic diabetes in India: an overview. In: Podolsky S, Viswanathan M, editors. Secondary diabetes: the spectrum of diabetic syndromes. New York: Raven; 1980. pp 105-16.
4. RH Rao 1993 Is tropical diabetes malnutrition related? Diabetes Care 16 941 945
5. PJ Geevarghese V Kumara Pillai MP Joseph CS Pitchumoni 1962 The diagnosis of pancreatogenous diabetes mellitus J Assoc Phy India 10 173 180
6. PG Thomas P Augustine H Ramesh N Rangabashyam 1990 Observations and surgical management of tropical pancreatitis in Kerala and southern India World J Surg. 14 32 42
7. N Mittal R Mehrotra G Agarwal J Rajeshwari G Choudhuri S Sikora 2002 The clinical spectrum of fibrocalculous pancreatic diabetes in north India Natl Med J India 15 327 331
8. AG Shaper 1960 Chronic pancreatic disease and protein malnutrition Lancet i 1223 1224
9. DE McMillan PJ Geevarghese 1979 Dietary cyanide and tropical malnutrition diabetes Diabetes Care 2 202 208
10. V Mohan ST Chari GA Hitman S Suresh N Madanagopalan A Ramachandran 1989 Familial aggregation in tropical fibrocalculous pancreatic diabetes Pancreas 4 690 693
11. CS Yajnik KM Shelgikar 1993 Fibrocalculous pancreatic diabetes in Pune, India. Clinical features and follow-up for 7 years Diabetes Care 16 916 921
12. V Mohan R Mohan L Susheela C Snehalatha G Bharani VK Mahajan 1985 Tropical pancreatic diabetes in south India: heterogeneity in clinical and biochemical profile Diabetologia 28 229 232
13. V Mohan G Premalatha A Padma ST Chari CS Pitchumoni 1996 Fibrocalculous pancreatic diabetes. Long-term survival analysis Diabetes Care 19 1274 1278
14. E Bhatia SS Baijal R Kumar G Choudhuri 1995 Exocrine pancreatic and β-cell function in malnutrition related diabetes among North Indians Diabetes Care 18 1174 1178
15. CS Yajnik KM Shelgikar RA Sahasrabudhe SS Naik VR Pai KGMM Alberti 1995 The spectrum of pancreatic exocrine and endocrine (beta cell) function in tropical calcific pancreatitis Diabetologia 33 417 721
16. V Mohan KK Barman VS Rajan ST Chari R Deepa 2005 Natural history of endocrine failure in tropical chronic pancreatitis: a longitudinal follow-up study J Gastroenterol Hepatol. 20 1927 1934
17. P Layer H Yamamoto L Kalthoff JE Clain LJ Bakken EP Dimagno 1994 The different courses of early- and late-onset idiopathic and alcoholic pancreatitis Gastroenterology 107 1481 1487
18. LN Balaji BN Tandon RK Tandon PA Banks 1994 Prevalence and clinical features of chronic pancreatitis in Southern India Int J Pancreatol. 15 29 34
19. VP Jyotsana SK Singh D Gopal AG Unnikrishnan NK Agrawal SK Singh 2002 Clinical and biochemical profiles of young diabetics in North-Eastern India J Assoc Phy India 50 1130 1134
20. V Bhatia V Arya P Dabadghao K Balasubramanian K Sharma N Verghese 2004 Etiology and outcome of childhood and adolescent diabetes mellitus in North India J Pediatr Endocrinol Metab. 17 993 999
21. PK Garg RK Tandon 2004 Survey on chronic pancreatitis in the Asia-Pacific region J Gastroenterol Hepatol. 19 998 1004
22. V Balakrishnan P Nair L Radhakrishnan VA Narayanan 2006 Tropical pancreatitis-a distinct entity or merely a type of chronic pancreatitis? Indian J Gastroenterol. 25 74 81
23. Cyanogenic glycosides in cassava and bamboo shoots. A human health risk assessment. Technical report series no. 28. Food Standards Australia New Zealand July 2004.
24. T Teuscher P Baillod JB Rosman A Teuscher 1987 Absence of diabetes in a rural West African population with a high carbohydrate/cassava diet Lancet i 765 768
25. DC Mathangi R Deepa V Mohan M Govindarajan A Namasivayam 2000 Long-term ingestion of cassava (tapioca) does not produce diabetes or pancreatitis in the rat model Int J Pancreatol. 27 203 208
26. S Sandhyamani A Vijayakumari M Balaraman Nair 1999 Bonnet monkey model for pancreatic changes in induced malnutrition Pancreas 18 84 95
27. H Chiari 1996 Über Selbstverdauung des menschlichen Pankreas Z Heilkunde 17 69 96
28. DC Whitcomb MC Gorry RA Preston W Furey MJ Sossenheimer CD Ulrich 1996 Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene Nat Genet. 14 141 145
29. M Sahin-Tóth M Tóth 2000 Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen Biochem Biophys Res Commun. 278 286 289
30. N Teich J Rosendahl M Tóth J Mössner M Sahin-Tóth 2006 Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis Hum Mutat. 27 721 730
31. N Teich C Le Maréchal Z Kukor K Caca H Witzigmann JM Chen 2004 Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2) Hum Mutat. 23 22 31
32. MW Comfort AG Steinberg 1952 Pedigree of a family with hereditary chronic relapsing pancreatitis Gastroenterology 21 54 63
33. H Witt W Luck M Becker 1999 A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis Gastroenterology 117 7 10
34. Z Nemoda M Sahin-Tóth 2006 Chymotrypsin C (caldecrin) stimulates autoactivation of human cationic trypsinogen J Biol Chem. 281 11879 11886
35. C Le Maréchal E Masson JM Chen F Morel P Ruszniewski P Levy 2006 Hereditary pancreatitis caused by triplication of the trypsinogen locus Nat Genet. 38 1372 1374
36. H Archer N Jura J Keller M Jacobson D Bar-Sagi 2006 A mouse model of hereditary pancreatitis generated by transgenic expression of R122H trypsinogen Gastroenterology 131 1844 1855
37. E Bhatia G Choudhuri SS Sikora O Landt A Kage M Becker 2002 Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations Gastroenterology 123 1020 1025
38. GR Chandak MM Idris DN Reddy KR Mani S Bhaskar GV Rao 2004 Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis Gut. 53 723 728
39. E Masson C Le Maréchal GR Chandak J Lamoril S Bezieau S Mahurkar 2008 Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis Clin Gastroenterol Hepatol. 6 82 88
40. H Witt M Sahin-Tóth O Landt JM Chen T Kähne JP Drenth 2006 A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis Nat Genet. 38 668 673
41. S Santhosh H Witt RH te Morsche Z Nemoda T Molnár A Pap 2008 A loss of function polymorphism (G191R) of anionic trypsinogen (PRSS2) confers protection against chronic pancreatitis Pancreas 36 317 320
42. Santhosh S, Chacko A, Dutta AK, Bhatia E, Witt H, te Morsche RHM, et al. Divergent roles of SPINK1 and PRSS2 variants in tropical calcific pancreatitis. Pancreatology. 2008 (in press).
43. MM Idris S Bhaskar DN Reddy KR Mani GV Rao L Singh 2005 Mutations in anionic trypsinogen gene are not associated with tropical calcific pancreatitis Gut. 54 728 729
44. M Laskowski FC Wu 1953 Temporary inhibition of trypsin J Biol Chem. 204 797 805
45. H Witt W Luck HC Hennies M Claßen A Kage U Laß 2000 Mutations in the gene encoding mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis Nat Genet. 25 213 216
46. H Witt MV Apte V Keim JS Wilson 2007 Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy Gastroenterology 132 1557 1573
47. K Kuwata M Hirota H Shimizu M Nakae S Nishihara A Takimoto 2002 Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution J Gastroenterol. 37 928 934
48. O Király T Wartmann M Sahin-Tóth 2007 Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation Gut. 56 1433 1438
49. A Boulling C Le Maréchal P Trouvé O Raguénès JM Chen C Férec 2007 Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene Eur J Hum Genet. 15 936 942
50. O Király A Boulling H Witt C Le Maréchal JM Chen J Rosendahl 2007 Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis Hum Mutat. 28 469 476
51. JD Nathan J Romac RY Peng M Peyton RJ Macdonald RA Liddle 2005 Transgenic expression of pancreatic secretory trypsin inhibitor-I ameliorates secretagogue-induced pancreatitis in mice Gastroenterology 128 717 727
52. M Ohmuraya M Hirota M Araki N Mizushima M Matsui T Mizumoto 2005 Autophagic cell death of pancreatic acinar cells in serine protease inhibitor Kazal type 3-deficient mice Gastroenterology 129 696 705
53. M Ohmuraya M Hirota K Araki H Baba K Yamamura 2006 Enhanced trypsin activity in pancreatic acinar cells deficient for serine protease inhibitor kazal type 3 Pancreas 33 104 106
54. GR Chandak MM Idris DN Reddy S Bhaskar PV Sriram L Singh 2002 Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis J Med Genet. 39 347 351
55. Z Hassan V Mohan L Ali R Allotey K Barakat MO Faruque 2002 SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent Am J Hum Genet. 71 964 968
56. A Schneider A Suman L Rossi MM Barmada C Beglinger S Parvin 2002 SPINK1/PSTI mutations are associated with tropical pancreatitis and type II diabetes mellitus in Bangladesh Gastroenterology 123 1026 1030
57. H Witt W Luck M Becker M Böhmig A Kage K Truninger 2001 Mutation in the SPINK1 trypsin inhibitor gene, alcohol use, and chronic pancreatitis JAMA 285 2716 2717
58. H Witt 2003 Chronic pancreatitis and cystic fibrosis Gut. 52 Suppl 2 ii31 ii41
59. K Kaneko Y Nagasaki T Furukawa H Mizutamari A Sato A Masamune 2001 Analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene mutations in Japanese patients with chronic pancreatitis J Hum Genet. 46 293 297
60. K Kume A Masamune H Mizutamari K Kaneko K Kikuta M Satoh 2005 Mutations in the serine protease inhibitor Kazal Type 1 (SPINK1) gene in Japanese patients with pancreatitis Pancreatology 5 354 360
61. K Kume A Masamune K Kikuta T Shimosegawa 2006 [-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site Gut. 55 1214
62. T Snabboon W Plengpanich V Sridama S Sunthornyothin S Suwanwalaikorn W Khovidhunkit 2006 A SPINK1 gene mutation in a Thai patient with fibrocalculous pancreatic diabetes Southeast Asian J Trop Med Public Health 37 559 562
63. A Tomomura T Fukushige T Noda T Noikura T Saheki 1992 Serum calcium-decreasing factor (caldecrin) from porcine pancreas has proteolytic activity which has no clear connection with the calcium decrease FEBS Lett. 301 277 281
64. R Szmola M Sahin-Tóth 2007 Chymotrypsin C (caldecrin) promotes degradation of human cationic trypsin: identity with Rinderknecht's enzyme Y Proc Natl Acad Sci U S A 104 11227 11232
65. H Rinderknecht NF Adham IG Renner C Carmack 1988 A possible zymogen self-destruct mechanism preventing pancreatic autodigestion Int J Pancreatol. 3 33 44
66. J Rosendahl H Witt R Szmola E Bhatia B Ózsvári O Landt 2008 CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis Nat Genet. 40 78 82
67. JR Riordan JM Rommens B Kerem N Alon R Rozmahel Z Grzelczak 1989 Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA Science 245 1066 1073
68. B Kerem JM Rommens JA Buchanan D Markiewicz TK Cox A Chakravarti 1989 Identification of the cystic fibrosis gene: genetic analysis Science 245 1073 1080
69. JR Riordan 1993 The cystic fibrosis transmembrane conductance regulator Annu Rev Physiol. 55 609 630
70. N Sharer M Schwarz G Malone A Howarth J Painter M Super 1998 Mutations of the cystic fibrosis gene in patients with chronic pancreatitis N Engl J Med. 339 645 652
71. JA Cohn KJ Friedman PG Noone MR Knowles LM Silverman PS Jowell 1998 Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis N Engl J Med. 339 653 665
72. PG Noone Z Zhou LM Silverman PS Jowell MR Knowles JA Cohn 2001 Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations Gastroenterology 121 1310 1319
73. MP Audrézet JM Chen C Le Maréchal P Ruszniewski M Robaszkiewicz O Raguenes 2002 Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis Eur J Hum Genet. 10 100 106
74. E Bhatia P Durie J Zielenski D Lam SS Sikora G Choudhuri 2000 Mutations in the cystic fibrosis transmembrane regulator gene in patients with tropical calcific pancreatitis Am J Gastroenterol. 95 3658 3659
75. C Figarella B Miszczuk-Jamska A Barrett 1988 Possible lysosomal activation of pancreatic zymogens: activation of both human trypsinogens by cathepsin B and spontaneous acid activiation of human trypsinogen-1 Biol Chem Hoppe Seyler 369 293 298
76. O Watanabe FM Baccino ML Steer J Meldolesi 1984 Supramaximal caerulein stimulation and ultrastructure of rat pancreatic acinar cell: early morphological changes during development of experimental pancreatitis Am J Physiol. 246 G457 G467
77. W Halangk MM Lerch B Brandt-Nedelev W Roth M Ruthenbuerger T Reinheckel 2000 Role of cathepsin B in intracellular trypsinogen activation and the onset of acute pancreatitis J Clin Invest. 106 773 781
78. SD Leach IM Modlin GA Scheele FS Gorelick 1991 Intracellular activation of digestive zymogens in rat pancreatic acini. Stimulation by high doses of cholecystokinin J Clin Invest. 87 362 366
79. AK Saluja EA Donovan K Yamanaka Y Yamaguchi B Hofbauer ML Steer 1997 Cerulein-induced in vitro activation of trypsinogen in rat pancreatic acini is mediated by cathepsin B Gastroenterology 113 304 310
80. S Mahurkar MM Idris DN Reddy S Bhaskar GV Rao V Thomas 2006 Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis Gut. 55 1270 1275
81. G Montalto L Multigner H Sarles A De Caro 1988 Organic matrix of pancreatic stones associated with nutritional pancreatitis Pancreas 3 263 268
82. L Multigner A De Caro D Lombardo D Campese H Sarles 1983 Pancreatic stone protein, a phosphoprotein which inhibits calcium carbonate precipitation from human pancreatic juice Biochem Biophys Res Commun. 110 69 74
83. JP Bernard Z Adrich G Montalto A De Caro M De Reggi H Sarles 1992 Inhibition of nucleation and crystal growth of calcium carbonate by human lithostathine Gastroenterology 103 1277 1284
84. D Giorgi JP Bernard S Rouquier J Iovanna H Sarles JC Dagorn 1989 Secretory pancreatic stone protein messenger RNA. Nucleotide sequence and expression in chronic calcifying pancreatitis J Clin Invest. 84 100 106
85. D Bimmler R Graf GA Scheele TW Frick 1997 Pancreatic stone protein (lithostathine), a physiologically relevant pancreatic calcium carbonate crystal inhibitor? J Biol Chem. 272 3073 3082
86. K Hawrami V Mohan A Bone GA Hitman 1997 Analysis of islet regenerating (reg) gene polymorphisms in fibrocalculous pancreatic diabetes Pancreas 14 122 125
87. N Banchuin W Boonyasrisawat P Pulsawat S Vannasaeng C Deerochanawong S Sriussadaporn 2002 No abnormalities of reg1 alpha and reg1 beta gene associated with diabetes mellitus Diabetes Res Clin Pract. 55 105 111
88. W Boonyasrisawat P Pulsawat PT Yenchitsomanus S Vannasaeng P Pramukkul C Deerochanawong 2002 Analysis of the reg1alpha and reg1beta gene transcripts in patients with fibrocalculous pancreatopathy Southeast Asian J Trop Med Public Health 33 365 372
89. S Mahurkar S Bhaskar DN Reddy GV Rao GR Chandak 2007 Comprehensive screening for reg1alpha gene rules out association with tropical calcific pancreatitis World J Gastroenterol. 13 5938 5943
90. PS Leung MC Chappell 2003 A local pancreatic renin-angiotensin system: endocrine and exocrine roles Int J Biochem Cell Biol. 35 834 846
91. SP Ip PC Kwan CH Williams S Pang NM Hooper PS Leung 2003 Changes of angiotensin-converting enzyme activity in the pancreas of chronic hypoxia and acute pancreatitis Int J Biochem Cell Biol. 35 944 954
92. A Kuno T Yamada K Masuda K Ogawa M Sogawa S Nakamura 2003 Angiotensin-converting enzyme inhibitor attenuates pancreatic inflammation and fibrosis in male Wistar Bonn/Kobori rats Gastroenterology 124 1010 1019
93. T Yamada A Kuno K Masuda K Ogawa M Sogawa S Nakamura 2003 Candesartan, an angiotensin II receptor antagonist, suppresses pancreatic inflammation and fibrosis in rats J Pharmacol Exp Ther. 307 17 23
94. B Rigat C Hubert F Alhenc-Gelas F Cambien P Corvol F Soubier 1990 An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half of variance of serum enzyme levels J Clin Invest. 86 1343 1346
95. S Bhaskar DN Reddy S Mahurkar GV Rao L Singh GR Chandak 2006 Lack of significant association of an insertion/deletion polymorphism in the angiotensin converting enzyme (ACE) gene with tropical calcific pancreatitis BMC Gastroenterol. 6 42
96. GN Hendy L D'Souza-Li B Yang L Canaff DE Cole 2000 Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia Hum Mutat. 16 281 296
97. EE Murugaian RM Premkumar L Radhakrishnan B Vallath 2008 Novel mutations in the calcium sensing receptor gene in tropical chronic pancreatitis in India Scand J Gastroenterol. 43 1 117 121
98. P Felderbauer P Hoffmann H Einwächter K Bulut N Ansorge F Schmitz 2003 A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations BMC Gastroenterol. 3 34
99. P Felderbauer W Klein K Bulut N Ansorge G Dekomien I Werner 2006 Mutations in the calcium-sensing receptor: a new genetic risk factor for chronic pancreatitis? Scand J Gastroenterol. 41 343 348
100. PK Kambo GA Hitman V Mohan A Ramachandran C Snehalatha S Suresh 1989 The genetic predisposition to fibrocalculous pancreatic diabetes Diabetologia 32 45 51
101. CB Sanjeevi A Kanungo A Shtauvere KC Samal BB Tripathi 1999 Association of HLA class II alleles with different subgroups of diabetes mellitus in Eastern India identify different associations with IDDM and malnutrition-related diabetes Tissue Antigens 54 83 87
102. ZM Chowdhury MF McDermott S Davey Z Hassan PJ Sinnott SK Hemmatpour 2002 Genetic susceptibility to fibrocalculous pancreatic diabetes in Bangladeshi subjects: a family study Genes Immun. 3 5 8