Increased expression of PRSS1 or PRSS1<sup>R122H</sup> increased focal damage in pancreatic tissues and increased the severity of acute pancreatitis after caerulein injection.
The results of pooled analyses showed that CLDN2 rs7057398, MORC4 rs12688220 and PRSS1-PRSS2 rs10273639 polymorphisms were all significantly associated with susceptibility to acute pancreatitis in Caucasians.
Disruption of the locus that encodes cationic trypsinogen in mice (T7) causes loss of expression of the protein, but only partially decreases the severity of secretagogue-induced acute pancreatitis and has no effect on chronic pancreatitis.
Early-onset disease was associated with mutations in cationic trypsinogen (PRSS1) (P < .01), chymotrypsin C (CTRC) (P = .01), family history of acute pancreatitis (P = .02), family history of CP (P < .01), biliary cysts (P = .04), or chronic renal failure (P = .02).
The study's objective was to assess the association between the PRSS1R122H and N29I and the SPINK1 N34S mutations and acute pancreatitis (AP) and recurrent pancreatitis in Mexican pediatric patients.
The etiology of acute pancreatitis (AP) seems to have changed during the last two decades, and since detection of mutations in the gene for cationic trypsinogen(PRSS1) causing hereditary pancreatitis some patients formerly diagnosed with idiopathic AP (IAP) turn out to have a genetic cause.
Attacks of acute pancreatitis in HP subjects appear to be independent of the relative expression of the mutant PRSS1 H122 allele or SPINK1 gene expression.
The identification of a second mutation in the cationic trypsinogen gene (HP2) suggests a dominant role of trypsin in premature protease activation-mediated forms of acute pancreatitis.