Inflammatory Bowel Disease Susceptibility Gene C1ORF106 Regulates Intestinal Epithelial Permeability

Immunohorizons. 2018 May 30;2(5):164-171. doi: 10.4049/immunohorizons.1800027.

Abstract

Intestinal epithelial cells form a physical barrier that is tightly regulated to control intestinal permeability. Proinflammatory cytokines, such as TNF-α, increase epithelial permeability through disruption of epithelial junctions. The regulation of the epithelial barrier in inflammatory gastrointestinal disease remains to be fully characterized. In this article, we show that the human inflammatory bowel disease genetic susceptibility gene C1ORF106 plays a key role in regulating gut epithelial permeability. C1ORF106 directly interacts with cytohesins to maintain functional epithelial cell junctions. C1orf106-deficient mice are hypersensitive to TNF-α-induced increase in epithelial permeability, and this is associated with increased diarrhea. This study identifies C1ORF106 as an epithelial cell junction protein, and the loss of C1ORF106 augments TNF-α-induced intestinal epithelial leakage and diarrhea that may play a critical role in the development of inflammatory bowel disease.

MeSH terms

  • Animals
  • Caco-2 Cells
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Clustered Regularly Interspaced Short Palindromic Repeats / genetics
  • Epithelial Cells / metabolism
  • GTPase-Activating Proteins / metabolism
  • Guanine Nucleotide Exchange Factors / metabolism
  • HEK293 Cells
  • Humans
  • Inflammatory Bowel Diseases / genetics*
  • Inflammatory Bowel Diseases / metabolism
  • Inflammatory Bowel Diseases / pathology
  • Inflammatory Bowel Diseases / therapy
  • Intestinal Mucosa / metabolism*
  • Intestinal Mucosa / pathology*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Permeability
  • Receptors, Cytoplasmic and Nuclear / metabolism
  • Tight Junctions / genetics
  • Tight Junctions / metabolism
  • Tumor Necrosis Factor-alpha / genetics

Substances

  • Carrier Proteins
  • GTPase-Activating Proteins
  • Guanine Nucleotide Exchange Factors
  • INAVA protein, human
  • Receptors, Cytoplasmic and Nuclear
  • Tumor Necrosis Factor-alpha
  • cytohesin-1
  • cytohesin-2
  • phosphatidylinositol receptors