Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy

Nat Commun. 2018 Mar 8;9(1):1007. doi: 10.1038/s41467-018-03461-z.

Abstract

Dominant mutations in glycyl-tRNA synthetase (GlyRS) cause a subtype of Charcot-Marie-Tooth neuropathy (CMT2D). Although previous studies have shown that GlyRS mutants aberrantly interact with Nrp1, giving insight into the disease's specific effects on motor neurons, these cannot explain length-dependent axonal degeneration. Here, we report that GlyRS mutants interact aberrantly with HDAC6 and stimulate its deacetylase activity on α-tubulin. A decrease in α-tubulin acetylation and deficits in axonal transport are observed in mice peripheral nerves prior to disease onset. An HDAC6 inhibitor used to restore α-tubulin acetylation rescues axonal transport deficits and improves motor functions of CMT2D mice. These results link the aberrant GlyRS-HDAC6 interaction to CMT2D pathology and suggest HDAC6 as an effective therapeutic target. Moreover, the HDAC6 interaction differs from Nrp1 interaction among GlyRS mutants and correlates with divergent clinical presentations, indicating the existence of multiple and different mechanisms in CMT2D.

Publication types

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

MeSH terms

  • Acetylation
  • Animals
  • Axonal Transport / drug effects
  • Axonal Transport / genetics*
  • Axons / metabolism*
  • Charcot-Marie-Tooth Disease / genetics
  • Charcot-Marie-Tooth Disease / pathology*
  • Disease Models, Animal
  • Female
  • Glycine-tRNA Ligase / genetics
  • Glycine-tRNA Ligase / metabolism*
  • HEK293 Cells
  • Histone Deacetylase 6 / antagonists & inhibitors
  • Histone Deacetylase 6 / metabolism*
  • Humans
  • Hydroxamic Acids / pharmacology
  • Indoles / pharmacology
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Motor Neurons / metabolism*
  • Mutation
  • Nerve Tissue Proteins / metabolism
  • Neuropilin-1 / metabolism
  • Peripheral Nerves / metabolism
  • Tubulin / metabolism

Substances

  • Hydroxamic Acids
  • Indoles
  • Nerve Tissue Proteins
  • Nrp protein, mouse
  • Tubulin
  • Neuropilin-1
  • tubastatin A
  • Hdac6 protein, mouse
  • Histone Deacetylase 6
  • Glycine-tRNA Ligase

Supplementary concepts

  • Charcot-Marie-Tooth disease, Type 2D