Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen.

@article{SahinTth2000GainoffunctionMA,
  title={Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen.},
  author={Mikl{\'o}s Sahin-T{\'o}th and Mikl{\'o}s T{\'o}th},
  journal={Biochemical and biophysical research communications},
  year={2000},
  volume={278 2},
  pages={286-9}
}
Hereditary pancreatitis (HP), an autosomal dominant disorder, has been associated with mutations in the cationic trypsinogen gene. Here we demonstrate that the two most frequent HP mutations, Arg117 --> His and Asn21 --> Ile, significantly enhance autoactivation of human cationic trypsinogen in vitro, in a manner that correlates with the severity of clinical symptoms in HP. In addition, mutation Arg117 --> His inhibits autocatalytic inactivation of trypsin, while mutation Asn21 --> Ile has no… CONTINUE READING

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