Aberrant RNA homeostasis in amyotrophic lateral sclerosis: potential for new therapeutic targets?

Neurodegener Dis Manag. 2014;4(6):417-37. doi: 10.2217/nmt.14.36.

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by progressive motor neuron degeneration. The disease pathogenesis is multifaceted in that multiple cellular and molecular pathways have been identified as contributors to the disease progression. Consequently, numerous therapeutic targets have been pursued for clinical development, unfortunately with little success. The recent discovery of mutations in RNA modulating genes such as TARDBP/TDP-43, FUS/TLS or C9ORF72 changed our understanding of neurodegenerative mechanisms in ALS and introduced the role of dysfunctional RNA processing as a significant contributor to disease pathogenesis. This article discusses the latest findings on such RNA toxicity pathways in ALS and potential novel therapeutic approaches.

Keywords: ALS; ALS therapeutics; C9ORF72; RNA toxicity; TDP-43; repeat expansion.

Publication types

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

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / metabolism*
  • Animals
  • C9orf72 Protein
  • DNA-Binding Proteins / metabolism
  • Homeostasis
  • Humans
  • Mutation
  • Proteins / metabolism
  • RNA / genetics*
  • RNA / metabolism*
  • RNA Processing, Post-Transcriptional*
  • RNA-Binding Protein FUS / metabolism

Substances

  • C9orf72 Protein
  • C9orf72 protein, human
  • DNA-Binding Proteins
  • FUS protein, human
  • Proteins
  • RNA-Binding Protein FUS
  • TARDBP protein, human
  • RNA