Conditional ablation of the choroideremia gene causes age-related changes in mouse retinal pigment epithelium
Open accessAbstract
The retinal pigment epithelium (RPE) is a pigmented monolayer of cells lying between the photoreceptors and a layer of fenestrated capillaries, the choriocapillaris. Choroideremia (CHM) is an X-linked progressive degeneration of these three layers caused by the loss of function of Rab Escort protein-1 (REP1). REP1 is involved in the prenylation of Rab proteins, key regulators of membrane trafficking. To study the pathological consequences of chronic disruption of membrane traffic in the RPE we used a cell type-specific knock-out mouse model of the disease, where the Chm/Rep1 gene is deleted only in pigmented cells (Chm(Flox), Tyr-Cre+). Transmission electron microscopy (TEM) was used to quantitate the melanosome distribution in the RPE and immunofluorescent staining of rhodopsin was used to quantitate phagocytosed rod outer segments in retinal sections. The ultrastructure of the RPE and Bruch's membrane at different ages was characterised by TEM to analyse age-related changes occurring as a result of defects in membrane traffic pathways. Chm/Rep1 gene knockout in RPE cells resulted in reduced numbers of melanosomes in the apical processes and delayed phagosome degradation. In addition, the RPE accumulated pathological changes at 5-6 months of age similar to those observed in 2-year old controls. These included the intracellular accumulation of lipofuscin-containing deposits, disorganised basal infoldings and the extracellular accumulation of basal laminar and basal linear deposits. The phenotype of the Chm(Flox), Tyr-Cre+ mice suggests that loss of the Chm/Rep1 gene causes premature accumulation of features of aging in the RPE. Furthermore, the striking similarities between the present observations and some of the phenotypes reported in age-related macular degeneration (AMD) suggest that membrane traffic defects may contribute to the pathogenesis of AMD.
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In a conditional Chm−/− mouse, abnormally high accumulation of lipofuscin and sub-RPE deposits was reported.
“In the mutant CTSD transgenic mouse, sub-RPE deposits and photoreceptor degeneration were observed (Rakoczy et al., 2002), and in a conditional Chm−/− mouse, abnormally high accumulation of lipofuscin and sub-RPE deposits were also reported (Wavre-Shapton et al., 2013).”
From Microtubule motors transport phagosomes in the RPE, and lack of KLC1 leads to AMD-like pathogenesis (2015) · cites this paper as Wavre-Shapton et al., 2013
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- Authors
- Wavre-Shapton, S. T., Tolmachova, T., da Silva, M. L., Futter, C. E., & Seabra, M. C.
- Affiliations
- Imperial College London (GB)
- University College London (GB)
- Corresponding author
- Futter, Clare E.
- Seabra, Miguel C.
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2013-02-27
- Volume
- 8
- Issue
- 2
- Pages
- e57769
- ISSN
- 1932-6203 (ISSN-L)
- PMC
- PMC3584022
- OpenAlex
- W2010895728
- Cited by
- 67
- References
- 30
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 4 · 2023: 6 · 2022: 6 · 2021: 6 · 2020: 5 · 2019: 6 · 2018: 8 · 2017: 5 · 2016: 2 · 2015: 6 · 2014: 8
- FWCI
- 2.39
- Type
- journal article
- Language
- en
- Update notices
- correction (2013-05-06)
- Open access
- gold
- doi.org
- Locations
- PLoS ONE (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) (submittedVersion, other-oa)
- Funders
- Wellcome Trust
- Medical Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
- Keywords
- choroideremia, Rab escort protein 1, retinal pigment epithelium, conditional knockout, membrane trafficking, melanosomes, lipofuscin accumulation, Bruch's membrane, age-related macular degeneration, X-linked retinal degeneration, mouse model
- MeSH terms
- Aging, Animals, Extracellular Space, Lipofuscin, Mice, Inbred C57BL, Phagosomes, Bruch Membrane, Gene Deletion, Integrases, Melanosomes, Protein Transport, Intracellular Space, Adaptor Proteins, Signal Transducing, Mice, Retinal Pigment Epithelium
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