Using RPE65 as a tool to investigate ocular gene therapies

Tue, 04/19/2016 - 13:17

While not life threatening, blindness and retinal disease are profoundly debilitating and greatly affect quality of life.  Understandably, gene therapy has been subject to controversy given it’s potential effects on the rest of our cellular processes.  However, a genetically diseased eye being an isolated organ quickly becomes a promising prospect for such therapies.  Specifically, RPE antibodies are powerful diagnostic tools to test the viability of these clinical treatments. 

The RPE65 protein is organized into a thin layer of cells known as the retinal pigment epithelium (RPE). This RPE provides support to the retina, which sits behind the eye and has sensitivity to light. A mutation in RPE65 leads to retinal degeneration and LCA (Leber congenital amaurosis - an autosomal recessive childhood blindness), which results in a lack of 11-cis retinal productions and an inability to efficiently form the visual pigments rhodopsin and cone opsin. Studies from the Cashman group recently discovered that age related macular degeneration (AMD) retinal pathology is restored with the introduction of adenovirus (Ad)-mediated expression of complement component C3, using the RPE65 antibody (NB100-355) as a marker of restored function of the RPE. Other labs have also directly replaced RPE65 back into the RPE in vivo and in vitro with success. One study from Tang’s research group further elucidated the role of RPE65 using RPE65 antibodies to show that RPE65 supports human diurnal vision, primarily through expression in human green/red cones. This potential discovery will help to specialize therapy targets for new treatments. The additional benefit to gene therapy approaches in research point to investigatory findings in the lab, which is what Tang’s research group found when they increased ACE2 and angiotensin via AAV mediated gene delivery and discovered that it had potential to rescue diabetic retinal degeneration.  They used the RPE65 antibody as a marker to show the localization of the Mas receptor in respect to the RPE. The Mas receptor is expressed in the developing retina, and Mas receptor-mediated signaling may play an important role in the development of the retina. Hernandez et al also used the RPE65 antibody (NB100-355) as a marker to examine the long-term effects of key retinal proteins after rescue with AAV2 viral vectors containing normal human or canine RPE65 cDNA. 

It is clear that the RPE65 antibody plays an in important role in examining the efficacy of such therapeutic treatments, and is a standard and reliable marker of retinal function and structure. 

RPE65 antibody

Immunohistochemistry-Frozen: RPE65 Antibody (401.8B11.3D9) [NB100-355] - Staining of RPE65 in a cryosection of mouse retina tissue using RPE65 antibody (clone 401.8B11.3D9).


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