Mutant TDP-43 and FUS cause age-dependent paralysis and neurodegeneration in C. elegans

PLoS One. 2012;7(2):e31321. doi: 10.1371/journal.pone.0031321. Epub 2012 Feb 21.

Abstract

Mutations in the DNA/RNA binding proteins TDP-43 and FUS are associated with Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration. Intracellular accumulations of wild type TDP-43 and FUS are observed in a growing number of late-onset diseases suggesting that TDP-43 and FUS proteinopathies may contribute to multiple neurodegenerative diseases. To better understand the mechanisms of TDP-43 and FUS toxicity we have created transgenic Caenorhabditis elegans strains that express full-length, untagged human TDP-43 and FUS in the worm's GABAergic motor neurons. Transgenic worms expressing mutant TDP-43 and FUS display adult-onset, age-dependent loss of motility, progressive paralysis and neuronal degeneration that is distinct from wild type alleles. Additionally, mutant TDP-43 and FUS proteins are highly insoluble while wild type proteins remain soluble suggesting that protein misfolding may contribute to toxicity. Populations of mutant TDP-43 and FUS transgenics grown on solid media become paralyzed over 7 to 12 days. We have developed a liquid culture assay where the paralysis phenotype evolves over several hours. We introduce C. elegans transgenics for mutant TDP-43 and FUS motor neuron toxicity that may be used for rapid genetic and pharmacological suppressor screening.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aging / metabolism
  • Aging / pathology*
  • Animals
  • Animals, Genetically Modified
  • Caenorhabditis elegans / metabolism*
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / metabolism*
  • Humans
  • Longevity
  • Motor Neurons / metabolism
  • Motor Neurons / pathology
  • Mutant Proteins / chemistry
  • Mutant Proteins / metabolism*
  • Nerve Degeneration / complications
  • Nerve Degeneration / metabolism
  • Nerve Degeneration / pathology*
  • Nerve Degeneration / physiopathology
  • Paralysis / complications
  • Paralysis / metabolism
  • Paralysis / pathology*
  • Paralysis / physiopathology
  • Phenotype
  • Protein Structure, Quaternary
  • RNA-Binding Protein FUS / chemistry
  • RNA-Binding Protein FUS / metabolism*
  • Solubility
  • Staining and Labeling
  • Synaptic Transmission
  • Transgenes / genetics
  • gamma-Aminobutyric Acid / metabolism

Substances

  • DNA-Binding Proteins
  • Mutant Proteins
  • RNA-Binding Protein FUS
  • gamma-Aminobutyric Acid