HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patients

Nat Commun. 2017 Oct 11;8(1):861. doi: 10.1038/s41467-017-00911-y.

Abstract

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disorder due to selective loss of motor neurons (MNs). Mutations in the fused in sarcoma (FUS) gene can cause both juvenile and late onset ALS. We generated and characterized induced pluripotent stem cells (iPSCs) from ALS patients with different FUS mutations, as well as from healthy controls. Patient-derived MNs show typical cytoplasmic FUS pathology, hypoexcitability, as well as progressive axonal transport defects. Axonal transport defects are rescued by CRISPR/Cas9-mediated genetic correction of the FUS mutation in patient-derived iPSCs. Moreover, these defects are reproduced by expressing mutant FUS in human embryonic stem cells (hESCs), whereas knockdown of endogenous FUS has no effect, confirming that these pathological changes are mutant FUS dependent. Pharmacological inhibition as well as genetic silencing of histone deacetylase 6 (HDAC6) increase α-tubulin acetylation, endoplasmic reticulum (ER)-mitochondrial overlay, and restore the axonal transport defects in patient-derived MNs.Amyotrophic lateral sclerosis (ALS) leads to selective loss of motor neurons. Using motor neurons derived from induced pluripotent stem cells from patients with ALS and FUS mutations, the authors demonstrate that axonal transport deficits that are observed in these cells can be rescued by HDAC6 inhibition.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Amyotrophic Lateral Sclerosis / genetics*
  • Axonal Transport*
  • CRISPR-Cas Systems
  • Female
  • Histone Deacetylase 6 / antagonists & inhibitors
  • Histone Deacetylase 6 / metabolism*
  • Humans
  • Hydroxamic Acids
  • Indoles
  • Induced Pluripotent Stem Cells
  • Male
  • Motor Neurons / metabolism*
  • Point Mutation
  • Primary Cell Culture
  • Pyrimidines
  • RNA-Binding Protein FUS / genetics*

Substances

  • FUS protein, human
  • Hydroxamic Acids
  • Indoles
  • N-hydroxy-2-(1-phenylcycloproylamino)pyrimidine-5-carboxamide
  • Pyrimidines
  • RNA-Binding Protein FUS
  • tubastatin A
  • HDAC6 protein, human
  • Histone Deacetylase 6