Morphological and Biochemical Effects of a Mntation in an AMD Candidate Gene on RPE Cells

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In: Student Reports, Summer 2019, The Jackson Laboratory


The purpose of this study is to examine the effects of a candidate mutation for Agerelated Macular Degeneration (AMD) in the Tissue Inhibitor of Metalloproteinases 3 (TIMP3) mutation on Retinal Pigment Epithelium (RPE) cells derived from human induced pluripotent stem cells (biPSCs). Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) and CRIS PR associated protein 9 (Cas9) was used to create the mutant strains, which, along with isogenic control cells) were differentiated into RPE cells and compared for morphology, protein expression levels, and growth capabilities. In doing so, we hoped to reinforce the connections previously made between TIMP3 and AMD and expand on that research to gain a better understanding of the causes behind AMD. Our goal was to explore the possible role of this particular TIMP3 variant in AMD and to gain a better understanding of the early pathology of the disease. While we were unable to definitively determine whether or not the differences that we noted between the cell types is of consequence to the study as a whole, the variations that we did notice will prove useful with further analysis and research. The results of this study are relevant as it could provide further study in mouse models to better understand the effects of this candidate gene mutation on AMD.

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