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. 1998 Apr;51(2):115–117. doi: 10.1136/mp.51.2.115

Evidence for a common mutation in hereditary pancreatitis.

S M Bell 1, C Bennett 1, A F Markham 1, N J Lench 1
PMCID: PMC395622  PMID: 9713598

Abstract

Hereditary pancreatitis is an autosomal dominant disorder with incomplete penetrance. It is characterised by recurring episodes of severe abdominal pain and often presents in childhood. Recently, a mutation in the cationic trypsinogen gene was identified in this disease. Previously, only one mutation at residue 117 of the trypsinogen gene has been found in the five separate hereditary pancreatitis families, four from the USA and one from Italy. Alteration of the Arg117 site is believed to disrupt a fail-safe mechanism for the inactivation of trypsin, leading to autodigestion of the pancreas under certain conditions. Molecular analysis of the trypsinogen gene was carried out on a hereditary pancreatitis family from the UK. The same G to A mutation at residue 117 was identified in this family, suggesting that this is a common mutation in hereditary pancreatitis.

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Selected References

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  1. Blackbourn D. J., Ambroziak J., Lennette E., Adams M., Ramachandran B., Levy J. A. Infectious human herpesvirus 8 in a healthy North American blood donor. Lancet. 1997 Mar 1;349(9052):609–611. doi: 10.1016/S0140-6736(96)10004-0. [DOI] [PubMed] [Google Scholar]
  2. Bolognesi M., Gatti G., Menagatti E., Guarneri M., Marquart M., Papamokos E., Huber R. Three-dimensional structure of the complex between pancreatic secretory trypsin inhibitor (Kazal type) and trypsinogen at 1.8 A resolution. Structure solution, crystallographic refinement and preliminary structural interpretation. J Mol Biol. 1982 Dec 25;162(4):839–868. doi: 10.1016/0022-2836(82)90550-2. [DOI] [PubMed] [Google Scholar]
  3. Cesarman E., Knowles D. M. Kaposi's sarcoma-associated herpesvirus: a lymphotropic human herpesvirus associated with Kaposi's sarcoma, primary effusion lymphoma, and multicentric Castleman's disease. Semin Diagn Pathol. 1997 Feb;14(1):54–66. [PubMed] [Google Scholar]
  4. Dupin N., Grandadam M., Calvez V., Gorin I., Aubin J. T., Havard S., Lamy F., Leibowitch M., Huraux J. M., Escande J. P. Herpesvirus-like DNA sequences in patients with Mediterranean Kaposi's sarcoma. Lancet. 1995 Mar 25;345(8952):761–762. doi: 10.1016/s0140-6736(95)90642-8. [DOI] [PubMed] [Google Scholar]
  5. Le Bodic L., Bignon J. D., Raguénès O., Mercier B., Georgelin T., Schnee M., Soulard F., Gagne K., Bonneville F., Muller J. Y. The hereditary pancreatitis gene maps to long arm of chromosome 7. Hum Mol Genet. 1996 Apr;5(4):549–554. doi: 10.1093/hmg/5.4.549. [DOI] [PubMed] [Google Scholar]
  6. Lin B. T., Chen Y. Y., Battifora H., Weiss L. M. Absence of Kaposi's sarcoma-associated herpesvirus-like DNA sequences in malignant vascular tumors of the serous membranes. Mod Pathol. 1996 Dec;9(12):1143–1146. [PubMed] [Google Scholar]
  7. Moore P. S., Boshoff C., Weiss R. A., Chang Y. Molecular mimicry of human cytokine and cytokine response pathway genes by KSHV. Science. 1996 Dec 6;274(5293):1739–1744. doi: 10.1126/science.274.5293.1739. [DOI] [PubMed] [Google Scholar]
  8. Moore P. S., Chang Y. Detection of herpesvirus-like DNA sequences in Kaposi's sarcoma in patients with and without HIV infection. N Engl J Med. 1995 May 4;332(18):1181–1185. doi: 10.1056/NEJM199505043321801. [DOI] [PubMed] [Google Scholar]
  9. Perrault J. Hereditary pancreatitis. Gastroenterol Clin North Am. 1994 Dec;23(4):743–752. [PubMed] [Google Scholar]
  10. Rettig M. B., Ma H. J., Vescio R. A., Põld M., Schiller G., Belson D., Savage A., Nishikubo C., Wu C., Fraser J. Kaposi's sarcoma-associated herpesvirus infection of bone marrow dendritic cells from multiple myeloma patients. Science. 1997 Jun 20;276(5320):1851–1854. doi: 10.1126/science.276.5320.1851. [DOI] [PubMed] [Google Scholar]
  11. Schmitter D., Lauber B., Fagg B., Stahel R. A. Hematopoietic growth factors secreted by seven human pleural mesothelioma cell lines: interleukin-6 production as a common feature. Int J Cancer. 1992 May 8;51(2):296–301. doi: 10.1002/ijc.2910510220. [DOI] [PubMed] [Google Scholar]
  12. Tomita Y., Naka N., Aozasa K., Cesarman E., Knowles D. M. Absence of Kaposi's-sarcoma-associated herpesvirus-like DNA sequences (KSHV) in angiosarcomas developing in body-cavity and other sites. Int J Cancer. 1996 Mar 28;66(1):141–142. doi: 10.1002/(SICI)1097-0215(19960328)66:1<141::AID-IJC25>3.0.CO;2-F. [DOI] [PubMed] [Google Scholar]
  13. Whitcomb D. C., Gorry M. C., Preston R. A., Furey W., Sossenheimer M. J., Ulrich C. D., Martin S. P., Gates L. K., Jr, Amann S. T., Toskes P. P. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet. 1996 Oct;14(2):141–145. doi: 10.1038/ng1096-141. [DOI] [PubMed] [Google Scholar]
  14. Whitcomb D. C., Preston R. A., Aston C. E., Sossenheimer M. J., Barua P. S., Zhang Y., Wong-Chong A., White G. J., Wood P. G., Gates L. K., Jr A gene for hereditary pancreatitis maps to chromosome 7q35. Gastroenterology. 1996 Jun;110(6):1975–1980. doi: 10.1053/gast.1996.v110.pm8964426. [DOI] [PubMed] [Google Scholar]

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