TDP-43 pathology in sporadic ALS occurs in motor neurons lacking the RNA editing enzyme ADAR2

Acta Neuropathol. 2010 Jul;120(1):75-84. doi: 10.1007/s00401-010-0678-x. Epub 2010 Apr 7.

Abstract

Both the appearance of cytoplasmic inclusions containing phosphorylated TAR DNA-binding protein (TDP-43) and inefficient RNA editing at the GluR2 Q/R site are molecular abnormalities observed specifically in motor neurons of patients with sporadic amyotrophic lateral sclerosis (ALS). The purpose of this study is to determine whether a link exists between these two specific molecular changes in ALS spinal motor neurons. We immunohistochemically examined the expression of adenosine deaminase acting on RNA 2 (ADAR2), the enzyme that specifically catalyzes GluR2 Q/R site-editing, and the expression of phosphorylated and non-phosphorylated TDP-43 in the spinal motor neurons of patients with sporadic ALS. We found that all motor neurons were ADAR2-positive in the control cases, whereas more than half of them were ADAR2-negative in the ALS cases. All ADAR2-negative neurons had cytoplasmic inclusions that were immunoreactive to phosphorylated TDP-43, but lacked non-phosphorylated TDP-43 in the nucleus. Our results suggest a molecular link between reduced ADAR2 activity and TDP-43 pathology.

MeSH terms

  • Adenosine Deaminase / deficiency
  • Adenosine Deaminase / metabolism*
  • Aged
  • Amyotrophic Lateral Sclerosis / metabolism*
  • Amyotrophic Lateral Sclerosis / pathology
  • Animals
  • Cell Nucleus / metabolism
  • Cell Nucleus / pathology
  • DNA-Binding Proteins / metabolism*
  • Female
  • Humans
  • Lumbar Vertebrae
  • Male
  • Mice
  • Mice, Transgenic
  • Middle Aged
  • Motor Neurons / metabolism*
  • Motor Neurons / pathology
  • Phosphorylation
  • RNA-Binding Proteins
  • Rats
  • Spinal Cord / metabolism*
  • Spinal Cord / pathology
  • Superoxide Dismutase / genetics
  • Superoxide Dismutase / metabolism
  • Superoxide Dismutase-1

Substances

  • DNA-Binding Proteins
  • RNA-Binding Proteins
  • SOD1 protein, human
  • Sod1 protein, mouse
  • Sod1 protein, rat
  • Superoxide Dismutase
  • Superoxide Dismutase-1
  • ADARB1 protein, human
  • Adenosine Deaminase