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Epithelial phenotype restoring drugs suppress macular degeneration phenotypes in an iPSC model.

Ruchi SharmaAman GeorgeMalika NimmagaddaDavide OrtolanBarbosa-Sabanero KarlaZoya QureshyDevika BoseRoba DejeneGenqing LiangQin WanJustin ChangBalendu Shekhar JhaOmar MemonKiyoharu Joshua MiyagishimaAaron RisingMadhu LalEric HansonRebecca KingMercedes Maria CamposMarc FerrerJuan AmaralDavid McGaugheyKapil Bharti
Published in: Nature communications (2021)
Age-related Macular Degeneration (AMD), a blinding eye disease, is characterized by pathological protein- and lipid-rich drusen deposits underneath the retinal pigment epithelium (RPE) and atrophy of the RPE monolayer in advanced disease stages - leading to photoreceptor cell death and vision loss. Currently, there are no drugs that stop drusen formation or RPE atrophy in AMD. Here we provide an iPSC-RPE AMD model that recapitulates drusen and RPE atrophy. Drusen deposition is dependent on AMD-risk-allele CFH(H/H) and anaphylatoxin triggered alternate complement signaling via the activation of NF-κB and downregulation of autophagy pathways. Through high-throughput screening we identify two drugs, L-745,870, a dopamine receptor antagonist, and aminocaproic acid, a protease inhibitor that reduce drusen deposits and restore RPE epithelial phenotype in anaphylatoxin challenged iPSC-RPE with or without the CFH(H/H) genotype. This comprehensive iPSC-RPE model replicates key AMD phenotypes, provides molecular insight into the role of CFH(H/H) risk-allele in AMD, and discovers two candidate drugs to treat AMD.
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