The ALS disease protein TDP-43 is actively transported in motor neuron axons and regulates axon outgrowth

Hum Mol Genet. 2012 Aug 15;21(16):3703-18. doi: 10.1093/hmg/dds205. Epub 2012 May 28.

Abstract

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease specifically affecting cortical and spinal motor neurons. Cytoplasmic inclusions containing hyperphosphorylated and ubiquitinated TDP-43 are a pathological hallmark of ALS, and mutations in the gene encoding TDP-43 have been directly linked to the development of the disease. TDP-43 is a ubiquitous DNA/RNA-binding protein with a nuclear role in pre-mRNA splicing. However, the selective vulnerability and axonal degeneration of motor neurons in ALS pose the question of whether TDP-43 may have an additional role in the regulation of the cytoplasmic and axonal fate of mRNAs, processes important for neuron function. To investigate this possibility, we have characterized TDP-43 localization and dynamics in primary cultured motor neurons. Using a combination of cell imaging and biochemical techniques, we demonstrate that TDP-43 is localized and actively transported in live motor neuron axons, and that it co-localizes with well-studied axonal mRNA-binding proteins. Expression of the TDP-43 C-terminal fragment led to the formation of hyperphosphorylated and ubiquitinated inclusions in motor neuron cell bodies and neurites, and these inclusions specifically sequestered the mRNA-binding protein HuD. Additionally, we showed that overexpression of full-length or mutant TDP-43 in motor neurons caused a severe impairment in axon outgrowth, which was dependent on the C-terminal protein-interacting domain of TDP-43. Taken together, our results suggest a role of TDP-43 in the regulation of axonal growth, and suggest that impairment in the post-transcriptional regulation of mRNAs in the cytoplasm of motor neurons may be a major factor in the development of ALS.

Publication types

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

MeSH terms

  • Amyotrophic Lateral Sclerosis / metabolism
  • Amyotrophic Lateral Sclerosis / pathology*
  • Animals
  • Axons / metabolism*
  • Axons / pathology
  • Brain-Derived Neurotrophic Factor / pharmacology
  • Cells, Cultured
  • Cytoplasm / metabolism
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism*
  • ELAV Proteins / metabolism
  • ELAV-Like Protein 4
  • Gene Knockdown Techniques
  • Humans
  • Mice
  • Mice, Transgenic
  • Motor Neurons / drug effects
  • Motor Neurons / metabolism*
  • Motor Neurons / pathology
  • Mutation
  • Phosphorylation
  • Protein Transport
  • RNA, Messenger / metabolism

Substances

  • Brain-Derived Neurotrophic Factor
  • DNA-Binding Proteins
  • ELAV Proteins
  • ELAV-Like Protein 4
  • ELAVL4 protein, human
  • RNA, Messenger