Elongator subunit 3 (ELP3) modifies ALS through tRNA modification

Hum Mol Genet. 2018 Apr 1;27(7):1276-1289. doi: 10.1093/hmg/ddy043.

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal degenerative motor neuron disorder of which the progression is influenced by several disease-modifying factors. Here, we investigated ELP3, a subunit of the elongator complex that modifies tRNA wobble uridines, as one of such ALS disease modifiers. ELP3 attenuated the axonopathy of a mutant SOD1, as well as of a mutant C9orf72 ALS zebrafish model. Furthermore, the expression of ELP3 in the SOD1G93A mouse extended the survival and attenuated the denervation in this model. Depletion of ELP3 in vitro reduced the modified tRNA wobble uridine mcm5s2U and increased abundance of insoluble mutant SOD1, which was reverted by exogenous ELP3 expression. Interestingly, the expression of ELP3 in the motor cortex of ALS patients was reduced and correlated with mcm5s2U levels. Our results demonstrate that ELP3 is a modifier of ALS and suggest a link between tRNA modification and neurodegeneration.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis* / genetics
  • Amyotrophic Lateral Sclerosis* / metabolism
  • Animals
  • C9orf72 Protein / genetics
  • C9orf72 Protein / metabolism
  • Histone Acetyltransferases* / genetics
  • Histone Acetyltransferases* / metabolism
  • Motor Cortex / metabolism*
  • Nerve Tissue Proteins* / genetics
  • Nerve Tissue Proteins* / metabolism
  • RNA Processing, Post-Transcriptional
  • RNA, Transfer* / genetics
  • RNA, Transfer* / metabolism
  • Superoxide Dismutase-1 / genetics
  • Superoxide Dismutase-1 / metabolism
  • Zebrafish

Substances

  • C9orf72 Protein
  • Nerve Tissue Proteins
  • RNA, Transfer
  • Superoxide Dismutase-1
  • ELP3 protein, zebrafish
  • Histone Acetyltransferases