title: [Pancreatitis-associated gene mutations].
abstract: Since the discovery of the cationic trypsinogen gene mutations in patients with hereditary pancreatitis, a variety of pancreatitis-associated gene mutations have been reported, including pancreatic secretory trypsin inhibitor and cystic fibrosis transmembrane conductance regulator. Although the patients with these mutations are rarely seen, genetic disorders inducing pancreatitis have provided us major breakthroughs to understand the molecular basis of the disease. Furthermore, the major stream in pancreatology has been evidenced in patients with hereditary pancreatitis: acute pancreatitis --> chronic pancreatitis --> pancreatic cancer. This report will focus on the pancreatitis-associated genes and the molecular mechanism of pancreatitis associating with these gene mutations.
authors.affiliation: Department of Gastroenterology and Hepatology, Kochi Medical School.
authors.forename: Isao
authors.initials: I
authors.lastname: Nishimori
authors.forename: Saburo
authors.initials: S
authors.lastname: Onishi
mesh_terms: D000818:Animals; D002352:Carrier Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D009154:Mutation; D010195:Pancreatitis / Q000235:genetics*; D014357:Trypsin / Q000235:genetics*; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014362:Trypsinogen / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000235:genetics
chemical_list: C505032:CFTR protein, human; D002352:Carrier Proteins; D036341:Intercellular Signaling Peptides and Proteins; C486642:SPINK1 protein, human; D000515:alpha 1-Antitrypsin; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014362:Trypsinogen; C489303:PRSS1 protein, human; D014357:Trypsin