September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Rescue of MerTK retinitis pigmentosa using a human induced pluripotent stem cell disease model
Author Affiliations & Notes
  • Conor M Ramsden
    Ophthalmology, Institute of Ophthalmology, London, England, United Kingdom
    Vitreoretinal, Moorfields Eye Hospital, London, United Kingdom
  • Britta Nommiste
    Ophthalmology, Institute of Ophthalmology, London, England, United Kingdom
  • Amelia Lane
    Ophthalmology, Institute of Ophthalmology, London, England, United Kingdom
  • Michael Powner
    Ophthalmology, Institute of Ophthalmology, London, England, United Kingdom
  • Amanda-Jayne Francis Carr
    Ophthalmology, Institute of Ophthalmology, London, England, United Kingdom
  • Andrew Webster
    Ophthalmology, Institute of Ophthalmology, London, England, United Kingdom
  • Anthony T Moore
    Ophthalmology, Institute of Ophthalmology, London, England, United Kingdom
  • Lyndon da Cruz
    Vitreoretinal, Moorfields Eye Hospital, London, United Kingdom
  • Pete Coffey
    Ophthalmology, Institute of Ophthalmology, London, England, United Kingdom
  • Footnotes
    Commercial Relationships   Conor Ramsden, None; Britta Nommiste, None; Amelia Lane, None; Michael Powner, None; Amanda-Jayne Carr, None; Andrew Webster, None; Anthony Moore, None; Lyndon da Cruz, None; Pete Coffey , None
  • Footnotes
    Support  MRC/CIRM - G1000730
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 1141. doi:
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      Conor M Ramsden, Britta Nommiste, Amelia Lane, Michael Powner, Amanda-Jayne Francis Carr, Andrew Webster, Anthony T Moore, Lyndon da Cruz, Pete Coffey; Rescue of MerTK retinitis pigmentosa using a human induced pluripotent stem cell disease model. Invest. Ophthalmol. Vis. Sci. 2016;57(12):1141.

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      © 2017 Association for Research in Vision and Ophthalmology.

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Abstract

Purpose : Inherited retinopathies are fast becoming the leading cause of blindness in developed countries. In order to counter this heterogeneous group of diseases, adequate disease models need to be developed in order to better understand pathology and to test potential therapies. Induced pluripotent stem cells offer us a new and radicle way to recapitulate the disease in the dish and give us almost limitless material to drive discovery.

Methods : Fibroblast derived stem cells were used to generate RPE from a patient suffering from retinitis pigmentosa due to a deficiency in MerTK. The MerTK deficiency arises from a nonsense mutation causing a premature stop codon. These RPE cells were fully characterised and then exposed to a drug screen of read-through agents to force expression of the whole length protein.

Results : Two candidate read-through agents were able to force translation through the premature stop codon. The G418 and PTC124 compounds had the best effect at restoring a full length MerTK protein phenotype.

Conclusions : These findings represent a promising avenue of drug discovery in order to treat this rare and devastating disease.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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