title: Genetic mutations in exons 3 and 4 of the pancreatic secretory trypsin inhibitor in patients with pancreatitis.
abstract: OBJECTIVE
  We hypothesized that mutations in the pancreatic secretory trypsin inhibitor (PSTI) gene could promote autodigestion, leading to acute or chronic pancreatitis. Our investigation involved mutation analysis of the PSTI gene in patients with acute or chronic pancreatitis.
  
  
  METHODS
  Mutation analysis for the PSTI gene was performed in patients with acute or chronic pancreatitis. Unrelated healthy volunteers and family members of a chronic pancreatitis patient with point mutations in the PSTI gene were also analyzed.
  
  
  RESULTS
  Two types of single-point mutation in the PSTI gene were observed in one patient with chronic pancreatitis: 34Asn (AAT)-to-Ser (AGT) (101 A > G N34S: N34S) in exon 3, and 67Arg (CGC)-to-Cys (TGC) (199 C > T R67C: R67C) in exon 4. No mutations with amino-acid substitution were found in other patients or in the volunteer group. In the patient with the PSTI gene mutations, no additional mutations were observed in the cationic trypsinogen gene. The family study revealed that the mother and a maternal uncle were homozygotes for the N34S mutation, while the father and brother were compound heterozygotes for the N34S and R67C mutations. The uncle (N34S/N34S) showed clinical manifestations of pancreatitis, but the other family members did not.
  
  
  CONCLUSIONS
  The N34S mutation may cause a predisposition to pancreatitis, with incomplete penetrance. However, with the limited information available, it is not known whether the R67C mutation promotes pancreatitis.
authors.affiliation: Second Department of Surgery, Kumamoto University Medical School, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Kuwata
authors.forename: M
authors.initials: M
authors.lastname: Hirota
authors.forename: H
authors.initials: H
authors.lastname: Sugita
authors.forename: M
authors.initials: M
authors.lastname: Kai
authors.forename: N
authors.initials: N
authors.lastname: Hayashi
authors.forename: M
authors.initials: M
authors.lastname: Nakamura
authors.forename: T
authors.initials: T
authors.lastname: Matsuura
authors.forename: N
authors.initials: N
authors.lastname: Adachi
authors.forename: I
authors.initials: I
authors.lastname: Nishimori
authors.forename: M
authors.initials: M
authors.lastname: Ogawa
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010195:Pancreatitis / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D014359:Trypsin Inhibitor, Kazal Pancreatic / Q000235:genetics*
chemical_list: D014359:Trypsin Inhibitor, Kazal Pancreatic