November 12, 2014
Notes: Furukawa, Hiroyuki
Mol Med Rep. 2013 Aug;8(2):335-8. doi: 10.3892/mmr.2013.1509. Epub 2013 Jun 6.
Author Address: Department of Gastroenterological Surgery, Division of Cancer Medicine, Graduate School of Medical Science, Kanazawa University, Kanazawa, Ishikawa 9208641, Japan. email@example.com
Reference Type: Journal Article
Record Number: 5177Author: Gao, F., Li, Y. M., Hong, G. L., Xu, Z. F., Liu, Q. C., He, Q. L., Lin, L. Q. and Weng, S. H.
Title: PRSS1_p.Leu81Met mutation results in autoimmune pancreatitis
Journal: World J Gastroenterol
Date: Jun 7
Short Title: PRSS1_p.Leu81Met mutation results in autoimmune pancreatitis
Alternate Journal: World journal of gastroenterology : WJG
ISSN: 2219-2840 (Electronic)
Accession Number: 23745036
Autoimmune Diseases/blood/diagnosis/drug therapy/enzymology/*genetics
Genetic Predisposition to Disease
Magnetic Resonance Imaging
Tomography, X-Ray Computed
Abstract: AIM: To describe protease serine 1 (PRSS1) gene mutations in patients with autoimmune pancreatitis (AIP) and the clinical features of AIP. METHODS: Fourteen patients with AIP, 56 with other chronic pancreatitis, 254 with pancreatic cancer and 120 normal controls were studied. The mutations and polymorphisms of four genes involved with pancreatitis or pancreatic cancer, PRSS1, SPINK1, CFTR and MEN1, were sequenced. The pathogenic mechanism of AIP was investigated by comparing the wild-type expression system with the p.81Leu–>Met mutant expression system. RESULTS: Two novel mutations (p.81Leu–>Met and p.91Ala–>Ala) were found in PRSS1 gene from four patients with AIP. PRSS1_p.81Leu–>Met mutation led to a trypsin display reduction (76.2%) combined with phenyl agarose (Ca(2+) induced failure). Moreover, the ratio of trypsin/amylase in patients with AIP was higher than in the patients with pancreatic cancer and other pancreatitis. A large number of lymphocytes and plasma cells were found in the bile ducts accompanied by hyperplasia of myofibroblasts. CONCLUSION: Autoimmune pancreatitis may be related to PRSS1 gene mutations.