tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase

Science. 2021 Sep 3;373(6559):1161-1166. doi: 10.1126/science.abb3356. Epub 2021 Sep 1.

Abstract

Heterozygous mutations in six transfer RNA (tRNA) synthetase genes cause Charcot-Marie-Tooth (CMT) peripheral neuropathy. CMT mutant tRNA synthetases inhibit protein synthesis by an unknown mechanism. We found that CMT mutant glycyl-tRNA synthetases bound tRNAGly but failed to release it, resulting in tRNAGly sequestration. This sequestration potentially depleted the cellular tRNAGly pool, leading to insufficient glycyl-tRNAGly supply to the ribosome. Accordingly, we found ribosome stalling at glycine codons and activation of the integrated stress response (ISR) in affected motor neurons. Moreover, transgenic overexpression of tRNAGly rescued protein synthesis, peripheral neuropathy, and ISR activation in Drosophila and mouse CMT disease type 2D (CMT2D) models. Conversely, inactivation of the ribosome rescue factor GTPBP2 exacerbated peripheral neuropathy. Our findings suggest a molecular mechanism for CMT2D, and elevating tRNAGly levels may thus have therapeutic potential.

Publication types

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

MeSH terms

  • Animals
  • Charcot-Marie-Tooth Disease / genetics
  • Charcot-Marie-Tooth Disease / metabolism*
  • Disease Models, Animal
  • Drosophila melanogaster
  • Female
  • Glycine-tRNA Ligase / genetics
  • Glycine-tRNA Ligase / metabolism*
  • Humans
  • Male
  • Mice
  • Mice, Transgenic
  • Motor Neurons / physiology
  • RNA, Transfer, Gly / genetics
  • RNA, Transfer, Gly / metabolism*

Substances

  • RNA, Transfer, Gly
  • Glycine-tRNA Ligase

Supplementary concepts

  • Charcot-Marie-Tooth disease, Type 2D