TDP-43: a novel neurodegenerative proteinopathy

Curr Opin Neurobiol. 2007 Oct;17(5):548-55. doi: 10.1016/j.conb.2007.08.005. Epub 2007 Oct 23.

Abstract

Over the past decade, it has become clear that there is a significant overlap in the clinical spectrum of frontotemporal lobar degeneration and amyotrophic lateral sclerosis (ALS). The identification of TDP-43 as the major disease protein in the pathology of both frontotemporal lobar degeneration with ubiquitin inclusions and ALS provides the first molecular link for these diseases. Pathological TDP-43 is abnormally phosphorylated, ubiquitinated, and cleaved to generate carboxy-terminal fragments in affected brain regions. The normal nuclear expression of TDP-43 is also reduced leading to the hypothesis that sequestration of TDP-43 in pathological inclusions contributes to disease pathogenesis. Thus, TDP-43 is the newest member of the growing list of neurodegenerative proteinopathies, but unique in that it lacks features of brain amyloidosis.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Amyotrophic Lateral Sclerosis / metabolism*
  • Amyotrophic Lateral Sclerosis / pathology
  • DNA-Binding Proteins / metabolism*
  • Dementia / metabolism*
  • Dementia / pathology
  • Humans
  • Ubiquitin / metabolism

Substances

  • DNA-Binding Proteins
  • Ubiquitin