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Misfolding cationic trypsinogen variant p.L104P causes hereditary pancreatitis
  1. Balázs Csaba Németh1,
  2. Árpád V Patai2,
  3. Miklós Sahin-Tóth3,
  4. Péter Hegyi4,5
  1. 1First Department of Medicine, University of Szeged, Szeged, Hungary
  2. 22nd Department of Medicine, Semmelweis University, Budapest, Hungary
  3. 3Department of Molecular and Cell Biology, Center for Exocrine Disorders, Boston University Henry M. Goldman School of Dental Medicine, Boston, Massachusetts, USA
  4. 4Institute for Translational Medicine and First Department of Medicine, University of Pécs, Pécs, Hungary
  5. 5MTA-SZTE Translational Gastroenterology Research Group, Szeged, Hungary
  1. Correspondence to Professor Péter Hegyi, Institute for Translational Medicine and First Department of Medicine, University of Pécs, Szigeti út 12, Pécs H-7624, Hungary; p.hegyi{at}tm-pte.org

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We read the recent publication of Schnúr et al1 with great interest, in which the authors proposed that a subset of human cationic trypsinogen (PRSS1) variants caused chronic pancreatitis by inducing misfolding and endoplasmic reticulum (ER) stress rather than increased intrapancreatic trypsin activity. PRSS1 variants that promote premature trypsinogen activation are the strongest known risk factors for chronic pancreatitis; often associated with autosomal-dominant hereditary pancreatitis. ER-stress causing PRSS1 variants, on the other hand, have been mostly found in sporadic disease with no family history suggesting these variants might confer lower risk.

To refute this notion, here we report a hereditary pancreatitis family of Hungarian origin carrying the heterozygous c.311T>C (p.L104P) PRSS1 variant which was recently demonstrated to induce misfolding and ER stress.2 The index patient, his mother and first cousin developed recurrent acute or chronic pancreatitis in this family (figure 1 …

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