Cited by 290Retinal Development and DisordersRetinal Diseases and TreatmentsVirus-based gene therapy research

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Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk

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Vollrath, Douglas, Feng, Wei, Duncan, Jacque L., Yasumura, Douglas, D'Cruz, Patricia M., Chappelow, Aimee, Matthes, Michael T., Kay, Mark A., LaVail, Matthew M.·2001·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.221364198PMC PMC60097

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Abstract

The Royal College of Surgeons (RCS) rat is a widely studied animal model of retinal degeneration in which the inability of the retinal pigment epithelium (RPE) to phagocytize shed photoreceptor outer segments leads to a progressive loss of rod and cone photoreceptors. We recently used positional cloning to demonstrate that the gene Mertk likely corresponds to the retinal dystrophy ( rdy ) locus of the RCS rat. In the present study, we sought to determine whether gene transfer of Mertk to a RCS rat retina would result in correction of the RPE phagocytosis defect and preservation of photoreceptors. We used subretinal injection of a recombinant replication-deficient adenovirus encoding rat Mertk to deliver the gene to the eyes of young RCS rats. Electrophysiological assessment of animals 30 days after injection revealed an increased sensitivity of treated eyes to low-intensity light. Histologic and ultrastructural assessment demonstrated substantial sparing of photoreceptors, preservation of outer segment structure, and correction of the RPE phagocytosis defect in areas surrounding the injection site. Our results provide definitive evidence that mutation of Mertk underlies the RCS retinal dystrophy phenotype, and that the phenotype can be corrected by treatment of juvenile animals. To our knowledge, this is the first demonstration of complementation of both a functional cellular defect (phagocytosis) and a photoreceptor degeneration by gene transfer to the RPE. These results, together with the recent discovery of MERTK mutations in individuals with retinitis pigmentosa, emphasize the importance of the RCS rat as a model for gene therapy of diseases that arise from RPE dysfunction.

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Authors: Vollrath, D., Feng, W., Duncan, J. L., Yasumura, D., D'Cruz, P. M., Chappelow, A., Matthes, M. T., Kay, M. A., & LaVail, M. M.
Affiliations: University of California, San Francisco (US)
ORCID: Feng, Wei
Duncan, Jacque L.
Matthes, Michael T.
Kay, Mark A.
Venue: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Published: 2001-10-09
Volume: 98
Issue: 22
Pages: 12584-12589
ISSN: 0027-8424 (ISSN-L)
1091-6490
DOI: 10.1073/pnas.221364198
PMC: PMC60097
OpenAlex: W2057314625
Semantic Scholar: 0d9d2bb2b8ead15d2bced09ea8f2d91745995d28
Cited by: 290
References: 45
Citations by year: 2026: 5 · 2025: 4 · 2024: 9 · 2023: 5 · 2022: 8 · 2021: 11 · 2020: 10 · 2019: 10 · 2018: 12 · 2017: 12 · 2016: 12 · 2015: 14 · 2014: 11 · 2013: 13 · 2012: 15
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Proceedings of the National Academy of Sciences (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Foundation Fighting Blindness
Karl Kirchgessner Foundation
Research to Prevent Blindness (EY02162)
Macula Vision Research Foundation
National Institutes of Health (EY01919, EY00415)
National Eye Institute (EY-06842, P30EY002162, EY-01919, R01EY001919, K08EY000415, F32EY006842, R01EY006842)
National Institute of Diabetes and Digestive and Kidney Diseases (R01DK049022)
Topics: Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
Keywords: MERTK, retinal degeneration, retinal pigment epithelium, photoreceptor outer segment phagocytosis, photoreceptor degeneration, viral gene delivery, adenoviral vector, subretinal injection, complementation, retinitis pigmentosa, gene therapy, RCS rat
MeSH terms: c-Mer Tyrosine Kinase, Adenoviridae, Animals, HeLa Cells, Humans, Phagocytosis, Phenotype, Photoreceptor Cells, Pigment Epithelium of Eye, Proto-Oncogene Proteins, Retinal Diseases, Genetic Therapy, Receptor Protein-Tyrosine Kinases, Gene Transfer, Horizontal, Rats

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Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk

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