Optogenetic TDP-43 nucleation induces persistent insoluble species and progressive motor dysfunction in vivo

Neurobiol Dis. 2020 Dec:146:105078. doi: 10.1016/j.nbd.2020.105078. Epub 2020 Sep 12.

Abstract

TDP-43 is a predominantly nuclear DNA/RNA binding protein that is often mislocalized into insoluble cytoplasmic inclusions in post-mortem patient tissue in a variety of neurodegenerative disorders including Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal dementia (FTD). The underlying causes of TDP-43 proteinopathies remain unclear, but recent studies indicate the formation of these protein assemblies is driven by aberrant phase transitions of RNA deficient TDP-43. Technical limitations have prevented our ability to understand how TDP-43 proteinopathy relates to disease pathogenesis. Current animal models of TDP-43 proteinopathy often rely on overexpression of wild-type TDP-43 to non-physiological levels that may initiate neurotoxicity through nuclear gain of function mechanisms, or by the expression of disease-causing mutations found in only a fraction of ALS patients. New technologies allowing for light-responsive control of subcellular protein crowding provide a promising approach to drive intracellular protein aggregation, as we have previously demonstrated in vitro. Here we present a model for the optogenetic induction of TDP-43 proteinopathy in Drosophila that recapitulates key features of patient pathology, including detergent insoluble cytoplamsic inclusions and progressive motor dysfunction.

Keywords: ALS/FTD; LATE; Neurodegeneration; RNA binding proteins; TDP-43; optoTDP43.

Publication types

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

MeSH terms

  • Animals
  • Cell Nucleus / metabolism
  • DNA-Binding Proteins / metabolism
  • Drosophila
  • Frontotemporal Dementia / genetics*
  • Frontotemporal Dementia / pathology
  • Inclusion Bodies / metabolism*
  • Mutation / genetics*
  • Neurodegenerative Diseases / genetics
  • Neurodegenerative Diseases / metabolism
  • Neurons / metabolism
  • Optogenetics / methods
  • TDP-43 Proteinopathies / genetics*

Substances

  • DNA-Binding Proteins