EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

Nat Med. 2012 Sep;18(9):1418-22. doi: 10.1038/nm.2901.

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. Disease onset and progression are variable, with survival ranging from months to decades. Factors underlying this variability may represent targets for therapeutic intervention. Here, we have screened a zebrafish model of ALS and identified Epha4, a receptor in the ephrin axonal repellent system, as a modifier of the disease phenotype in fish, rodents and humans. Genetic as well as pharmacological inhibition of Epha4 signaling rescues the mutant SOD1 phenotype in zebrafish and increases survival in mouse and rat models of ALS. Motor neurons that are most vulnerable to degeneration in ALS express higher levels of Epha4, and neuromuscular re-innervation by axotomized motor neurons is inhibited by the presence of Epha4. In humans with ALS, EPHA4 expression inversely correlates with disease onset and survival, and loss-of-function mutations in EPHA4 are associated with long survival. Furthermore, we found that knockdown of Epha4 also rescues the axonopathy induced by expression of mutant TAR DNA-binding protein 43 (TDP-43), another protein causing familial ALS, and the axonopathy induced by knockdown of survival of motor neuron 1, a model for spinomuscular atrophy. This suggests that Epha4 generically modulates the vulnerability of (motor) neurons to axonal degeneration and may represent a new target for therapeutic intervention.

Publication types

  • Research Support, American Recovery and Reinvestment Act
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / metabolism
  • Amyotrophic Lateral Sclerosis / physiopathology*
  • Analysis of Variance
  • Animals
  • Base Sequence
  • Gene Knockdown Techniques
  • Humans
  • Mice
  • Mice, Knockout
  • Molecular Sequence Data
  • Morpholinos / genetics
  • Motor Neurons / metabolism
  • Motor Neurons / pathology*
  • Phenotype*
  • Rats
  • Receptor, EphA4 / metabolism*
  • Rotarod Performance Test
  • Sequence Analysis, DNA
  • Signal Transduction / physiology*
  • Statistics, Nonparametric
  • Superoxide Dismutase / metabolism*
  • Superoxide Dismutase-1
  • Zebrafish

Substances

  • Morpholinos
  • SOD1 protein, human
  • Sod1 protein, mouse
  • Sod1 protein, rat
  • Superoxide Dismutase
  • Superoxide Dismutase-1
  • Receptor, EphA4