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PRSS1_p.Leu81Met Mutation Results in Autoimmune Pancreatitis

PRSS1_p.Leu81Met Mutation Results in Autoimmune Pancreatitis

Feng Gao, Yue-Ming Li, Guo-Lin Hong, Zhi-Feng Xu, Qi-Cai Liu, Qing-Liang He, Li-Qing Lin, Shao-Huang Weng

World J Gastroenterol. 2013 Jun 7;19(21):3332-8.

PMID: 23745036

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.

Chemicals Related in the Paper:

Catalog Number	Product Name	Structure	CAS Number	Price
IAR42411008	Phenyl-Agarose			Price

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