Abnormal RNA stability in amyotrophic lateral sclerosis

Nat Commun. 2018 Jul 20;9(1):2845. doi: 10.1038/s41467-018-05049-z.

Abstract

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) share key features, including accumulation of the RNA-binding protein TDP-43. TDP-43 regulates RNA homeostasis, but it remains unclear whether RNA stability is affected in these disorders. We use Bru-seq and BruChase-seq to assess genome-wide RNA stability in ALS patient-derived cells, demonstrating profound destabilization of ribosomal and mitochondrial transcripts. This pattern is recapitulated by TDP-43 overexpression, suggesting a primary role for TDP-43 in RNA destabilization, and in postmortem samples from ALS and FTD patients. Proteomics and functional studies illustrate corresponding reductions in mitochondrial components and compensatory increases in protein synthesis. Collectively, these observations suggest that TDP-43 deposition leads to targeted RNA instability in ALS and FTD, and may ultimately cause cell death by disrupting energy production and protein synthesis pathways.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Amyotrophic Lateral Sclerosis / genetics*
  • C9orf72 Protein / genetics
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism*
  • Female
  • Fibroblasts / metabolism
  • Frontotemporal Dementia / genetics*
  • Green Fluorescent Proteins / metabolism
  • Humans
  • Induced Pluripotent Stem Cells / cytology
  • Male
  • Middle Aged
  • Mitochondria / metabolism
  • Mutation*
  • RNA Stability*

Substances

  • C9orf72 Protein
  • DNA-Binding Proteins
  • TARDBP protein, human
  • Green Fluorescent Proteins