World journal of gastroenterology · 2013
PRSS1_p.Leu81Met mutation results in autoimmune pancreatitis.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Gao Feng, Li Yue-Ming, Hong Guo-Lin, Xu Zhi-Feng, Liu Qi-Cai, He Qing-Liang, Lin Li-Qing, Weng Shao-Huang
Аннотация
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.
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.
Предметные рубрики MeSH
AdultAgedAmylasesAutoimmune DiseasesBiomarkersBiopsyCalciumCase-Control StudiesFemaleGenetic Predisposition to DiseaseGlucocorticoidsHumansMagnetic Resonance ImagingMaleMiddle AgedMutationPancreatic NeoplasmsPancreatitisPancreatitis, ChronicPhenotypeRecombinant ProteinsTomography, X-Ray ComputedTrypsin