Examining aggregates through the eyes of WDFY3/Alfy

Autophagy. 2020 May;16(5):967-968. doi: 10.1080/15548627.2020.1739448. Epub 2020 Mar 13.

Abstract

The role protein aggregates play in the pathogenesis of neurodegenerative diseases has been a question since their initial observation. In this autophagic punctum, we discuss our recent findings of how the selectivity scaffold/adaptor WDFY3/Alfy is required for the turnover of aggregated mutant HTT (huntingtin; mHTT) in the adult brain, and how it confers resistance to Huntington disease (HD)-like symptoms. Depletion of WDFY3 in a mouse model of HD accelerates mHTT accumulation, and this is accompanied by an accelerated onset of motoric and neuropathological phenotypes, indicating that WDFY3 levels and the rate of aggregate accumulation can modify disease pathogenesis. Given that the accelerated accumulation is also recapitulated in medium spiny neurons created via direct conversion from human HD fibroblasts, we propose that WDFY3 is a genetic modifier of HD and suggest that it may also influence aging and the pathogenesis of other neurological disorders.

Keywords: Neurodegeneration; Wdfy3/Alfy; neurodegenerative disease; protein aggregation; selective autophagy.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adaptor Proteins, Signal Transducing / metabolism*
  • Animals
  • Autophagy / physiology*
  • Autophagy-Related Proteins / genetics
  • Autophagy-Related Proteins / metabolism*
  • Brain / metabolism*
  • Eye / metabolism
  • Humans
  • Huntington Disease / metabolism
  • Mice
  • Neurodegenerative Diseases / metabolism
  • Neurons / metabolism*

Substances

  • Adaptor Proteins, Signal Transducing
  • Autophagy-Related Proteins
  • WDFY3 protein, human
  • Wdfy3 protein, mouse