Investigative Ophthalmology & Visual Science Cover Image for Volume 65, Issue 7
June 2024
Volume 65, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2024
Membrane trafficking defects compromise the structural integrity of the RPE in Stargardt disease
Author Affiliations & Notes
  • Sydney Williams
    Ophthalmology, University of California San Francisco, San Francisco, California, United States
  • Nilsa La Cunza
    Ophthalmology, University of California San Francisco, San Francisco, California, United States
  • Colin James Germer
    Ophthalmology, University of California San Francisco, San Francisco, California, United States
  • Aparna Lakkaraju
    Ophthalmology, University of California San Francisco, San Francisco, California, United States
  • Footnotes
    Commercial Relationships   Sydney Williams None; Nilsa La Cunza None; Colin Germer None; Aparna Lakkaraju None
  • Footnotes
    Support  NIH-NEI EY002162
Investigative Ophthalmology & Visual Science June 2024, Vol.65, 4712. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Sydney Williams, Nilsa La Cunza, Colin James Germer, Aparna Lakkaraju; Membrane trafficking defects compromise the structural integrity of the RPE in Stargardt disease. Invest. Ophthalmol. Vis. Sci. 2024;65(7):4712.

      Download citation file:


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

      ×
  • Supplements
Abstract

Purpose : The polarized retinal pigment epithelium (RPE) performs many functions to ensure photoreceptor health and vision including retinoid recycling, delivery of nutrients to the retina, and daily phagocytosis of outer segments. These functions are made possible by a complex, interconnected, and efficient endosomal trafficking system regulated by approximately 60 Ras analog in brain (Rab) proteins. Studies in other organ systems have shown that specific Rab proteins such as Rab11a preserve epithelial polarity by delivering critical cargo to cell-cell junctions. Little is currently understood about how Rab proteins maintain RPE structural and functional integrity. Here, we investigated the role of Rab11a in regulating RPE junctional stability and examined how this is altered in models of macular degeneration.

Methods : Expression and localization of Rab11 and junctional proteins (connexin 43, P-cadherin, ZO1) were measured by immunostaining and immunobotting in polarized primary porcine RPE cultures and Abca4-/- mice, a model for Stargardt inherited macular dystrophy. Active Rab11 was measured using prenylation assays. Live imaging of Rab11 trafficking was
was performed using spinning disc confocal microscopy. The integrity of RPE cell-cell junctions in healthy and disease models was established using fluorometric dye transfer assays.

Results : Our data show that a pathological accumulation of lipofuscin bisretinoids in Abca4-/- mice leads to abnormal activation of Rab11a. This not only induces endosomal abnormalities, but also impairs trafficking of connexin 43 to gap junctions. Expansion of Rab11a+ endosomes leads to increased endocytosis of Cx43, E-cadherin, and other junctional proteins, which destabilizes RPE cell-cell junctions. Decreasing Rab prenylation using small molecule drugs restores endosome dynamics and junctional integrity in the RPE.

Conclusions : Our data show that Rab11a is essential for maintaining the polarity of the RPE through the precise delivery of junctional proteins. Given that RPE dedifferentiation and atrophy are poorly understood features of macular degenerations, these studies suggest that Rab regulatory systems serve as a novel therapeutic target for macular degeneration.

This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×