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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

https://doi.org/10.1136/gutjnl-2016-313451

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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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    Footnotes

    • MS-T and PH contributed equally

    • Contributors Study concept and design: BCN, AVP, MS-T and PH. Acquisition, analysis or interpretation of data: all authors. Drafting of the manuscript: all authors. Critical revision of the manuscript for important intellectual content: all authors. Obtained funding: PH and MS-T. Administrative, technical or material support: all authors. Study supervision: BCN, MS-T and PH. Final approval of manuscript as submitted: all authors. Guarantors of the article: BCN and PH.

    • Funding Hungarian Scientific Research Fund (K116634); Momentum Grant of the Hungarian Academy of Sciences (LP2014-10/2014); and Gazdaságfejlesztési és Innovációs Operatív Program GINOP-2.3.2-15-2016-00015 (to PH); National Institutes of Health R01 DK058088 (to MS-T).

    • Competing interests None declared.

    • Ethics approval Scientific and Research Ethics Committee of the Medical Research Council of Hungary (22254-1/2012/EKU).

    • Provenance and peer review Not commissioned; internally peer reviewed.

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