Retinal pigment epithelium-specific CLIC4 mutant is a mouse model of dry age-related macular degeneration

Jen-Zen Chuang (), Nan Yang, Nobuyuki Nakajima, Wataru Otsu, Cheng Fu, Howard Hua Yang, Maxwell Ping Lee, Armaan Fazal Akbar, Tudor Constantin Badea, Ziqi Guo, Afnan Nuruzzaman, Kuo-Shun Hsu, Joshua L. Dunaief and Ching-Hwa Sung ()
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Jen-Zen Chuang: Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine
Nan Yang: Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine
Nobuyuki Nakajima: Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine
Wataru Otsu: Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine
Cheng Fu: Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine
Howard Hua Yang: National Cancer Institute, National Institutes of Health
Maxwell Ping Lee: National Cancer Institute, National Institutes of Health
Armaan Fazal Akbar: National institute of Health
Tudor Constantin Badea: National institute of Health
Ziqi Guo: Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine
Afnan Nuruzzaman: Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine
Kuo-Shun Hsu: Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine
Joshua L. Dunaief: University of Pennsylvania
Ching-Hwa Sung: Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine

Nature Communications, 2022, vol. 13, issue 1, 1-14

Abstract: 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.

Date: 2022
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DOI: 10.1038/s41467-021-27935-9

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