July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
The role of protein biogenesis, trafficking and ER homeostasis in retinitis pigmentosa
Author Affiliations & Notes
  • Michael E. Cheetham
    UCL Institute of Ophthalmology, London, United Kingdom
  • Footnotes
    Commercial Relationships   Michael Cheetham, None
  • Footnotes
    Support  The Wellcome Trust, RP Fighting Blindness
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 3. doi:
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      Michael E. Cheetham; The role of protein biogenesis, trafficking and ER homeostasis in retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 2018;59(9):3.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Presentation Description : Increased understanding of the genetic basis of inherited retinal dystrophies, and retinitis pigmentosa in particular, has revealed that the photoreceptor endoplasmic reticulum (ER) plays an essential role in photoreceptor function and health. For example, there are specializations in the rod photoreceptor ER that are important for protein production, traffic and maintaining photoreceptor homeostasis. Furthermore, the ER is the site of biogenesis of rhodopsin (RHO), the major protein of the rod outer segment. Mutations in RHO are the most common cause of autosomal dominant retinitis pigmentosa and many mutations lead to protein misfolding and the retention of mutant rhodopsin in the ER, where it is degraded. In addition, these rhodopsin misfolding mutations can cause ER stress and induction of the unfolded protein response (UPR). Here I will discuss the specializations of the rod ER and the role of mutant protein associated ER stress in photoreceptor cell death in retinitis pigmentosa.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

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