ER stress in retinal degeneration in S334ter Rho rats

PLoS One. 2012;7(3):e33266. doi: 10.1371/journal.pone.0033266. Epub 2012 Mar 14.

Abstract

The S334ter rhodopsin (Rho) rat (line 4) bears the rhodopsin gene with an early termination codon at residue 334 that is a model for several such mutations found in human patients with autosomal dominant retinitis pigmentosa (ADRP). The Unfolded Protein Response (UPR) is implicated in the pathophysiology of several retinal disorders including ADRP in P23H Rho rats. The aim of this study was to examine the onset of UPR gene expression in S334ter Rho retinas to determine if UPR is activated in ADRP animal models and to investigate how the activation of UPR molecules leads to the final demise of S334ter Rho photoreceptors. RT-PCR was performed to evaluate the gene expression profiles for the P10, P12, P15, and P21 stages of the development and progression of ADRP in S334ter Rho photoreceptors. We determined that during the P12-P15 period, ER stress-related genes are strongly upregulated in transgenic retinas, resulting in the activation of the UPR that was confirmed using western blot analysis and RT-PCR. The activation of UPR was associated with the increased expression of JNK, Bik, Bim, Bid, Noxa, and Puma genes and cleavage of caspase-12 that together with activated calpains presumably compromise the integrity of the mitochondrial MPTP, leading to the release of pro-apoptotic AIF1 into the cytosol of S334ter Rho photoreceptor cells. Therefore, two major cross-talking pathways, the UPR and mitochondrial MPTP occur in S334ter-4 Rho retina concomitantly and eventually promote the death of the photoreceptor cells.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aging / genetics
  • Aging / pathology
  • Animals
  • Apoptosis / genetics
  • Apoptotic Protease-Activating Factor 1 / metabolism
  • Autophagy
  • Biomarkers / metabolism
  • Calpain / metabolism
  • Endoplasmic Reticulum Stress* / genetics
  • Endoplasmic Reticulum-Associated Degradation / genetics
  • Extracellular Signal-Regulated MAP Kinases / metabolism
  • Eye Proteins / genetics
  • Eye Proteins / metabolism
  • Gene Expression Regulation
  • Humans
  • JNK Mitogen-Activated Protein Kinases / metabolism
  • Mitochondria / metabolism
  • Mutation / genetics*
  • Oxidative Stress / genetics
  • PTEN Phosphohydrolase / metabolism
  • Photoreceptor Cells, Vertebrate / metabolism
  • Photoreceptor Cells, Vertebrate / pathology
  • Proto-Oncogene Proteins c-akt / metabolism
  • Rats
  • Retina / enzymology
  • Retina / growth & development
  • Retina / pathology
  • Retinal Degeneration / enzymology
  • Retinal Degeneration / genetics
  • Retinal Degeneration / pathology*
  • Rhodopsin / genetics*
  • Time Factors
  • Transcription Factors / metabolism

Substances

  • Apaf1 protein, rat
  • Apoptotic Protease-Activating Factor 1
  • Biomarkers
  • Eye Proteins
  • Transcription Factors
  • Rhodopsin
  • Proto-Oncogene Proteins c-akt
  • Extracellular Signal-Regulated MAP Kinases
  • JNK Mitogen-Activated Protein Kinases
  • PTEN Phosphohydrolase
  • Pten protein, rat
  • Calpain