Loss of HAI-2 in mice with decreased prostasin activity leads to an early-onset intestinal failure resembling congenital tufting enteropathy

PLoS One. 2018 Apr 4;13(4):e0194660. doi: 10.1371/journal.pone.0194660. eCollection 2018.

Abstract

Prostasin (CAP1/PRSS8) is a glycosylphosphatidylinositol (GPI)-anchored serine protease that is essential for epithelial development and overall survival in mice. Prostasin is regulated primarily by the transmembrane serine protease inhibitor, hepatocyte growth factor activator inhibitor (HAI)-2, and loss of HAI-2 function leads to early embryonic lethality in mice due to an unregulated prostasin activity. We have recently reported that critical in vivo functions of prostasin can be performed by proteolytically-inactive or zymogen-locked variants of the protease. Here we show that the zymogen form of prostasin does not bind to HAI-2 and, as a result, loss of HAI-2 does not affect prenatal development and survival of mice expressing only zymogen-locked variant of prostasin (Prss8 R44Q). Indeed, HAI-2-deficient mice homozygous for R44Q mutation (Spint2-/-;Prss8R44Q/R44Q) are born in the expected numbers and do not exhibit any obvious developmental abnormality at birth. However, postnatal growth in these mice is severely impaired and they all die within 4 to 7 days after birth due to a critical failure in the development of small and large intestines, characterized by a widespread villous atrophy, tufted villi, near-complete loss of mucin-producing goblet cells, loss of colonic crypt structure, and bleeding into the intestinal lumen. Intestines of Spint2-/-;Prss8R44Q/R44Q mice showed altered expression of epithelial junctional proteins, including reduced levels of EpCAM, E-cadherin, occludin, claudin-1 and -7, as well as an increased level of claudin-4, indicating that the loss of HAI-2 compromises intestinal epithelial barrier function. Our data indicate that the loss of HAI-2 in Prss8R44Q/R44Q mice leads to development of progressive intestinal failure that at both histological and molecular level bears a striking resemblance to human congenital tufting enteropathy, and may provide important clues for understanding and treating this debilitating human disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Claudin-1 / metabolism
  • Diarrhea, Infantile / metabolism
  • Diarrhea, Infantile / pathology*
  • Diarrhea, Infantile / veterinary
  • Down-Regulation
  • Embryonic Development
  • Enzyme Precursors / metabolism
  • Epithelial Cell Adhesion Molecule / metabolism
  • Intestinal Mucosa / metabolism
  • Intestines / growth & development
  • Intestines / pathology
  • Malabsorption Syndromes / metabolism
  • Malabsorption Syndromes / pathology*
  • Malabsorption Syndromes / veterinary
  • Membrane Proteins / deficiency
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Mutagenesis, Site-Directed
  • Occludin / metabolism
  • Protein Binding
  • Serine Endopeptidases / metabolism*

Substances

  • Claudin-1
  • Enzyme Precursors
  • Epithelial Cell Adhesion Molecule
  • Membrane Proteins
  • Occludin
  • Spint2 protein, mouse
  • Serine Endopeptidases
  • prostasin

Supplementary concepts

  • Diarrhea 5, With Tufting Enteropathy, Congenital

Grants and funding

This study was supported by National Institute of Dental and Craniofacial Research Intramural Research Program to TB. The funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.