Retinal pigment epithelium-specific CLIC4 mutant is a mouse model of dry age-related macular degeneration.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 35042858.
- Also identified by DOI 10.1038/s41467-021-27935-9 and PMC identifier 8766482.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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.
Medical subject headings
- Chloride Channels
- Macular Degeneration
- Mitochondrial Proteins
- Mutation
- Retinal Pigment Epithelium