Retinal pigment epithelium-specific CLIC4 mutant is a mouse model of dry age-related macular degeneration.
| Publication Type | Academic Article |
| Authors | Chuang J, Yang N, Nakajima N, Otsu W, Fu C, Yang H, Lee M, Akbar A, Badea T, Guo Z, Nuruzzaman A, Hsu K, Dunaief J, Sung C |
| Journal | Nat Commun |
| Volume | 13 |
| Issue | 1 |
| Pagination | 374 |
| Date Published | 01/18/2022 |
| ISSN | 2041-1723 |
| Keywords | Chloride Channels, Macular Degeneration, Mitochondrial Proteins, Mutation, Retinal Pigment Epithelium |
| Abstract | Age-related macular degeneration (AMD) is the leading cause of blindness among the elderly. Dry AMD has unclear etiology and no treatment. Lipid-rich drusen are the hallmark of dry AMD. An AMD mouse model and insights into drusenogenesis are keys to better understanding of this disease. Chloride intracellular channel 4 (CLIC4) is a pleomorphic protein regulating diverse biological functions. Here we show that retinal pigment epithelium (RPE)-specific Clic4 knockout mice exhibit a full spectrum of functional and pathological hallmarks of dry AMD. Multidisciplinary longitudinal studies of disease progression in these mice support a mechanistic model that links RPE cell-autonomous aberrant lipid metabolism and transport to drusen formation. |
| DOI | 10.1038/s41467-021-27935-9 |
| PubMed ID | 35042858 |
| PubMed Central ID | PMC8766482 |