Rescue of functional CFTR channels in cystic fibrosis: a dramatic multivalent effect using iminosugar cluster-based correctors

Chembiochem. 2013 Oct 11;14(15):2050-8. doi: 10.1002/cbic.201300312. Epub 2013 Sep 13.

Abstract

Cystic fibrosis is caused by a mutation in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. N-butyl 1-deoxynojirimycin (N-Bu DNJ), a clinical candidate for the treatment of cystic fibrosis, is able to act as a CFTR corrector by overcoming the processing defect of the mutant protein. To explore the potential of multivalency on CFTR correction activity, a library of twelve DNJ click clusters with valencies ranging from 3 to 14 were synthesized. Significantly, the trivalent analogues were found to be up to 225-fold more potent than N-Bu DNJ and up to 1000-fold more potent than the corresponding monovalent models. These results provide the first description of a multivalent effect for correcting protein folding defects in cells and should have application for the treatment of a number of protein folding disorders. Preliminary mechanistic studies indicated that CFTR correction activity enhancement was not due to a multivalent effect in ER-glucosidase inhibition or to a different mode of action of the multivalent iminosugars.

Keywords: CFTR correctors; cystic fibrosis; iminosugars; multivalency; protein folding diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Membrane / drug effects
  • Cell Membrane / metabolism
  • Cystic Fibrosis / drug therapy
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / metabolism*
  • Cystic Fibrosis / pathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / metabolism*
  • Drug Design*
  • HL-60 Cells
  • Humans
  • Imino Sugars / chemistry
  • Imino Sugars / pharmacology*
  • Imino Sugars / therapeutic use
  • Mutation

Substances

  • Imino Sugars
  • Cystic Fibrosis Transmembrane Conductance Regulator