RNA-binding proteins and RNA metabolism: a new scenario in the pathogenesis of Amyotrophic lateral sclerosis

Arch Ital Biol. 2011 Mar;149(1):83-99. doi: 10.4449/aib.v149i1.1261.

Abstract

Several RNA-processing genes have been implicated in the pathogenesis of Amyotrophic lateral sclerosis (ALS). In particular, causative mutations in the genes encoding for two DNA/RNA binding proteins, TAR DNA binding protein-43 (TDP-43) and fused in sarcoma/translocated in liposarcoma (FUS/TLS), were recently identified in ALS patients. These genetic findings and the presence of abnormal aggregates of these two RNA-binding proteins in ALS affected tissues suggest that molecular mechanisms regulating RNA metabolism are implicated in ALS pathogenesis through common pathways. In this review similarities and differences between TDP-43 and FUS/TLS proteins and their activities in physiological and pathological conditions will be discussed.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / pathology*
  • DNA-Binding Proteins / genetics
  • Humans
  • Models, Biological
  • RNA / metabolism*
  • RNA-Binding Protein FUS / genetics
  • RNA-Binding Proteins / genetics*
  • RNA-Binding Proteins / metabolism*

Substances

  • DNA-Binding Proteins
  • RNA-Binding Protein FUS
  • RNA-Binding Proteins
  • RNA