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

Journal: Nature Communications
Published:
Abstract

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.

Authors
Ruchi Sharma, Aman George, Malika Nimmagadda, Davide Ortolan, Barbosa-sabanero Karla, Zoya Qureshy, Devika Bose, Roba Dejene, Genqing Liang, Qin Wan, Justin Chang, Balendu Jha, Omar Memon, Kiyoharu Miyagishima, Aaron Rising, Madhu Lal, Eric Hanson, Rebecca King, Mercedes Campos, Marc Ferrer, Juan Amaral, David Mcgaughey, Kapil Bharti