期刊
WORLD JOURNAL OF GASTROENTEROLOGY
卷 19, 期 21, 页码 3332-3338出版社
BAISHIDENG PUBL GRP CO LTD
DOI: 10.3748/wjg.v19.i21.3332
关键词
Autoimmune pancreatitis; Molecular mechanism; p.81Leu -> Met; PRSS1
资金
- National Natural Science Foundation of China [81201362, 81201590, 21275028]
- Putian Municipal Science and Technology Bureau [2009S3-3]
- Fujian Medical Innovations [2012-CXB-21]
- Education Department of Fujian Province [JA12133, JA12143]
- National High Technology Investigation Project Foundation of China [2012AA022604]
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. (C) 2013 Baishideng. All rights reserved.
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