Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability

Hepatology. 2012 Apr;55(4):1249-59. doi: 10.1002/hep.24761. Epub 2012 Mar 1.

Abstract

Neonatal ichthyosis and sclerosing cholangitis (NISCH) syndrome is a liver disease caused by mutations of CLDN1 encoding Claudin-1, a tight-junction (TJ) protein. In this syndrome, it is speculated that cholestasis is caused by Claudin-1 absence, leading to increased paracellular permeability and liver injuries secondary to paracellular bile regurgitation. We studied the role of claudin-1 in hepatic paracellular permeability. A NISCH liver and polarized rat cell lines forming TJs, the hepatocellular Can 10 and the cholangiocellular normal rat choloangiocyte (NRC), were used. In contrast to NRC, Can 10 does not express claudin-1. Can 10 cells were transfected with a plasmid encoding Claudin-1, and stable Claudin-1-expressing clones were isolated. Claudin-1 expression was silenced by transfection with short interfering RNA in Can 10 clones and with short hairpin RNA in NRC. Claudin-1 expression was evaluated by quantitative reverse-transcriptase polymerase chain reaction, immunoblotting, and immunolocalization. Paracellular permeability was assessed by fluorescein isothiocyanate-dextran passage in both lines and by transepithelial resistance measurements in NRC. In the NISCH liver, Claudin-1 was not detected in hepatocytes or cholangiocytes. In Claudin-1 expressing Can 10 clones, Claudin-1 was localized at the TJ and paracellular permeability was decreased, compared to parental Can 10 cells, this decrease correlating with claudin-1 levels. Silencing of Claudin-1 in Can 10 clones increased paracellular permeability to a level similar to that of parental cells. Similarly, we observed an increase of paracellular permeability in NRC cells silenced for claudin-1 expression.

Conclusion: Defect in claudin-1 expression increases paracellular permeability in polarized hepatic cell lines, supporting the hypothesis that paracellular bile leakage through deficient TJs is involved in liver pathology observed in NISCH syndrome.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Bile Ducts / metabolism
  • Bile Ducts / pathology
  • Cell Line
  • Cell Line, Tumor
  • Cell Membrane Permeability / genetics
  • Cell Membrane Permeability / physiology*
  • Cells, Cultured
  • Cholangitis, Sclerosing / genetics
  • Cholangitis, Sclerosing / pathology
  • Cholangitis, Sclerosing / physiopathology*
  • Claudin-1
  • Disease Models, Animal
  • Gene Expression Regulation / drug effects
  • Hepatocytes / metabolism
  • Hepatocytes / pathology*
  • Humans
  • Ichthyosis / genetics
  • Ichthyosis / pathology
  • Ichthyosis / physiopathology*
  • Membrane Proteins / genetics
  • Membrane Proteins / physiology*
  • Mutation / genetics
  • RNA, Small Interfering / pharmacology
  • Rats
  • Syndrome
  • Tight Junctions / physiology
  • Transfection

Substances

  • CLDN1 protein, human
  • Claudin-1
  • Cldn1 protein, rat
  • Membrane Proteins
  • RNA, Small Interfering