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PRSS1_p.Leu81Met mutation results in autoimmune pancreatitis

ISSN号：1007-9327
期刊名称：World Journal of Gastroenterology
时间：2013.6.7
页码：3332-3338
分类：R576[医药卫生—消化系统;医药卫生—临床医学;医药卫生—内科学]
作者机构：[1]Department of Pathology,the First Affiliated Hospital of Fujian Medical University, [2]Department of Radiology,the First Affiliated Hospital of Fujian Medical University, [3]Department of Laboratory Medicine,the Second Hospital of Fuzhou, [4]Department of Surgery,the 95 Hospital of PLA, [5]Department of Laboratory Medicine,the First Affiliated Hospital of Fujian Medical University, [6]Department of Laboratory Medicine,Medical Technology and Engineering College of Fujian Medical University, [7]Department of Surgery,the First Affiliated Hospital of Fujian Medical University, [8]Department of Pharmaceutical Analysis,Fujian Medical University
相关基金：Supported by National Natural Science Foundation of China,No. 81201362, No. 81201590, No. 21275028;Putian Municipal Science and Technology Bureau Project, No. 2009S3-3;Fujian Medical Innovations, No. 2012-CXB-21;Education Department of Fujian Province, No. JA12133, No. JA12143;National High Technology Investigation Project Foundation of China, No.2012AA022604
相关项目：胰蛋白酶原基因及胰腺癌遗传异质性研究

作者： Qi-Cai Liu|Qing-Liang He|Li-Qing Lin|Shao-Huang Weng|

关键词： AUTOIMMUNE, PANCREATITIS, Molecular, mechanism, p.81Leu→Met, PRSS1, Autoimmune pancreatitis, Molecular mechanism, p.81Leu→Met, PRSS1

中文摘要：

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 (Ca2+ 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.

英文摘要：

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 (Ca2+ 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.

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