Retinal pigment epithelium-specific CLIC4 mutant is a mouse model of dry age-related macular degeneration. Academic Article uri icon

Overview

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.

authors

  • Chuang, Jen-Zen
  • Yang, Nan
  • Nakajima, Nobuyuki
  • Otsu, Wataru
  • Fu, Cheng
  • Yang, Howard Hua
  • Lee, Maxwell Ping
  • Akbar, Armaan Fazal
  • Badea, Tudor Constantin
  • Guo, Ziqi
  • Nuruzzaman, Afnan
  • Hsu, Kuo-Shun
  • Dunaief, Joshua L
  • Sung, Ching-Hwa

publication date

  • January 18, 2022

Research

keywords

  • Chloride Channels
  • Macular Degeneration
  • Mitochondrial Proteins
  • Mutation
  • Retinal Pigment Epithelium

Identity

PubMed Central ID

  • PMC8766482

Scopus Document Identifier

  • 85123116465

Digital Object Identifier (DOI)

  • 10.1038/s41467-021-27935-9

PubMed ID

  • 35042858

Additional Document Info

volume

  • 13

issue

  • 1