Anuraag Balaji
Research Mentor(s): Lev Prasov
Mentor Department: Ophthalmology and Visual Sciences; Human Genetics
Authors: Anuraag Balaji, Michelle Brinkmeier M.S, Lev Prasov M.D PhD
Session: Session 4 (1:00pm – 1:50pm)
Presentation Type: Poster 83
Abstract
Nanophthalmos is a developmental eye disorder characterized by smaller but structurally normal eyes, often leading to impaired vision. Myrf and Prss56 are critical genes involved in eye development, with Myrf functioning in the retinal pigment epithelium and Prss56 functioning in retinal progenitors and Müller glia. Previous studies have shown that deleting Myrf in the RPE upregulates the gene Prss56. We hypothesize that this upregulation of Prss56 is a compensatory mechanism for loss of Myrf to buffer normal eye growth. In order to bypass this compensation and assess the loss of Prss56 in the context of the Rx>cre Myrf conditional deletion, Rx>cre; Myrf fl/fl;Prss56 -/- double mutant mice were generated and analyzed using eye size measurements taken from postnatal day 1 (P1). An ANOVA test revealed no significant difference in eye size between Rx>cre; Myrf fl/fl;Prss56 -/- double mutant mice and the controls at P1. P1 is likely too early to detect significant changes in eye structure and future experiments are required to identify where in the developmental process changes in eye size occur. Hematoxylin and eosin staining was used to view the morphology of the eye in both controls and knockouts. Results for Myrf controls and mutants were consistent with previously published findings, showing dark pigmentation along the outer lining of the epithelial cells in Myrf control mice and reduced pigmentation in Myrf mutants. Further analysis is required to generalize findings for the morphology of Rx>cre; Myrf fl/fl;Prss56 -/- double knockouts. TMEM98 immunostaining was utilized to assess the downstream pathways of Myrf and Prss56 and analysis has shown that TMEM98 is not affected by the additional loss of Prss56. Future studies are required to examine specific pathways and markers that could be affected by the loss of both Myrf and Prss56.
