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Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis

✍ Scribed by Niels Teich; Jonas Rosendahl; Miklós Tóth; Joachim Mössner; Miklós Sahin-Tóth

Book ID
102259314
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
208 KB
Volume
27
Category
Article
ISSN
1059-7794

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✦ Synopsis

Ten years ago, the groundwork for the discovery of the genetic basis of chronic pancreatitis was laid by linkage analyses of large kindreds with autosomal dominant hereditary chronic pancreatitis. Subsequent candidate gene sequencing of the 7q35 chromosome region revealed a strong association of the c.365G > A (p.R122 H) mutation of the PRSS1 gene encoding cationic trypsinogen with hereditary pancreatitis. In the following years, further mutations of this gene were discovered in patients with hereditary or idiopathic chronic pancreatitis. In vitro the mutations increase autocatalytic conversion of trypsinogen to active trypsin and thus probably cause premature, intrapancreatic trypsinogen activation in vivo. The clinical presentation is highly variable, but most affected mutation carriers have relatively mild disease. In this review, we summarize the current knowledge on trypsinogen mutations and their role in pancreatic diseases.

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