Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS

Proc Natl Acad Sci U S A. 2014 Jan 14;111(2):829-32. doi: 10.1073/pnas.1314085111. Epub 2013 Dec 30.

Abstract

Amyotrophic lateral sclerosis (ALS) causes motor neuron degeneration, paralysis, and death. Accurate disease modeling, identifying disease mechanisms, and developing therapeutics is urgently needed. We previously reported motor neuron toxicity through postmortem ALS spinal cord-derived astrocytes. However, these cells can only be harvested after death, and their expansion is limited. We now report a rapid, highly reproducible method to convert adult human fibroblasts from living ALS patients to induced neuronal progenitor cells and subsequent differentiation into astrocytes (i-astrocytes). Non-cell autonomous toxicity to motor neurons is found following coculture of i-astrocytes from familial ALS patients with mutation in superoxide dismutase or hexanucleotide expansion in C9orf72 (ORF 72 on chromosome 9) the two most frequent causes of ALS. Remarkably, i-astrocytes from sporadic ALS patients are as toxic as those with causative mutations, suggesting a common mechanism. Easy production and expansion of i-astrocytes now enables rapid disease modeling and high-throughput drug screening to alleviate astrocyte-derived toxicity.

Keywords: neurodegeneration; neurotoxicity; reprogramming.

Publication types

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

MeSH terms

  • Amyotrophic Lateral Sclerosis / physiopathology*
  • Analysis of Variance
  • Astrocytes / cytology*
  • Astrocytes / metabolism
  • Cell Communication
  • Cell Culture Techniques
  • Cell Dedifferentiation / physiology*
  • Cell Differentiation / physiology*
  • DNA Primers / genetics
  • Fibroblasts / cytology*
  • Fluorescent Antibody Technique
  • Humans
  • Models, Biological
  • Motor Neurons / metabolism
  • Motor Neurons / pathology*
  • Neural Stem Cells / cytology*
  • Real-Time Polymerase Chain Reaction

Substances

  • DNA Primers