Implications of the prion-related Q/N domains in TDP-43 and FUS

Prion. 2011 Jan-Mar;5(1):1-5. doi: 10.4161/pri.5.1.14265. Epub 2011 Jan 1.

Abstract

Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are clinically overlapping neurodegenerative disorders whose pathophysiology remains incompletely understood. ALS initiates in a discrete location, and typically progresses in a pattern consistent with spread of the degenerative process to involve neighboring regions of the motor system, although the basis of the apparent "spread" remains elusive. Recently mutations in two RNA binding proteins, TDP-43 and FUS, were identified in patients with familial ALS. In addition to being involved in numerous events related to RNA metabolism, each forms aggregates in neurons in ALS and FTLD. Recent evidence also indicates that both TDP-43 and FUS contain prion-related domains rich in glutamine (Q) and asparagine (N) residues, and in the case of TDP-43 this is the location of most disease causing mutations. This review discusses the potential relevance of the prion-related domains in TDP-43 and FUS in normal physiology, pathologic aggregation, and disease progression in ALS and FTLD.

Publication types

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

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics
  • Amyotrophic Lateral Sclerosis / metabolism
  • Animals
  • Asparagine / genetics
  • DNA-Binding Proteins / chemistry*
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Frontotemporal Lobar Degeneration / genetics
  • Frontotemporal Lobar Degeneration / metabolism
  • Glutamine / genetics
  • Humans
  • Models, Genetic
  • Mutation
  • Neurons / metabolism
  • Prions / chemistry*
  • Prions / metabolism
  • Protein Structure, Tertiary
  • RNA-Binding Protein FUS / chemistry*
  • RNA-Binding Protein FUS / genetics*
  • RNA-Binding Protein FUS / metabolism

Substances

  • DNA-Binding Proteins
  • Prions
  • RNA-Binding Protein FUS
  • Glutamine
  • Asparagine