Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability

J Biol Chem. 2012 Oct 26;287(44):37483-94. doi: 10.1074/jbc.M112.386821. Epub 2012 Aug 6.

Abstract

Ciliopathies, a class of rare genetic disorders, present often with retinal degeneration caused by protein transport defects between the inner segment and the outer segment of the photoreceptors. Bardet-Biedl syndrome is one such ciliopathy, genetically heterogeneous with 17 BBS genes identified to date, presenting early onset retinitis pigmentosa. By investigating BBS12-deprived retinal explants and the Bbs12(-/-) murine model, we show that the impaired intraciliary transport results in protein retention in the endoplasmic reticulum. The protein overload activates a proapoptotic unfolded protein response leading to a specific Caspase12-mediated death of the photoreceptors. Having identified a therapeutic window in the early postnatal retinal development and through optimized pharmacological modulation of the unfolded protein response, combining three specific compounds, namely valproic acid, guanabenz, and a specific Caspase12 inhibitor, achieved efficient photoreceptor protection, thereby maintaining light detection ability in vivo.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Apoptosis / drug effects*
  • Bardet-Biedl Syndrome / drug therapy*
  • Biological Transport
  • Caspase 12 / metabolism
  • Caspase Inhibitors / pharmacology
  • Caspase Inhibitors / therapeutic use
  • Chaperonins / deficiency
  • Chaperonins / genetics
  • Cilia / metabolism
  • Cilia / pathology
  • Cytoprotection
  • Endoplasmic Reticulum Stress / drug effects
  • Guanabenz / pharmacology
  • Guanabenz / therapeutic use
  • Kinetics
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Phenotype
  • Photoreceptor Cells / drug effects*
  • Photoreceptor Cells / enzymology
  • Photoreceptor Cells / pathology
  • Retina / drug effects*
  • Retina / metabolism
  • Retina / pathology
  • Signal Transduction
  • Tissue Culture Techniques
  • Unfolded Protein Response / drug effects*
  • Valproic Acid / pharmacology
  • Valproic Acid / therapeutic use
  • Vision, Ocular / drug effects*

Substances

  • Bbs12 protein, mouse
  • Caspase Inhibitors
  • Valproic Acid
  • Casp12 protein, mouse
  • Caspase 12
  • Chaperonins
  • Guanabenz