Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy

Proc Natl Acad Sci U S A. 2013 Mar 19;110(12):4697-702. doi: 10.1073/pnas.1300398110. Epub 2013 Feb 11.

Abstract

Glial proliferation and activation are associated with disease progression in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar dementia. In this study, we describe a unique platform to address the question of cell autonomy in transactive response DNA-binding protein (TDP-43) proteinopathies. We generated functional astroglia from human induced pluripotent stem cells carrying an ALS-causing TDP-43 mutation and show that mutant astrocytes exhibit increased levels of TDP-43, subcellular mislocalization of TDP-43, and decreased cell survival. We then performed coculture experiments to evaluate the effects of M337V astrocytes on the survival of wild-type and M337V TDP-43 motor neurons, showing that mutant TDP-43 astrocytes do not adversely affect survival of cocultured neurons. These observations reveal a significant and previously unrecognized glial cell-autonomous pathological phenotype associated with a pathogenic mutation in TDP-43 and show that TDP-43 proteinopathies do not display an astrocyte non-cell-autonomous component in cell culture, as previously described for SOD1 ALS. This study highlights the utility of induced pluripotent stem cell-based in vitro disease models to investigate mechanisms of disease in ALS and other TDP-43 proteinopathies.

Publication types

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

MeSH terms

  • Amyotrophic Lateral Sclerosis* / metabolism
  • Amyotrophic Lateral Sclerosis* / pathology
  • Astrocytes* / metabolism
  • Astrocytes* / pathology
  • Cell Line
  • Cell Proliferation
  • Cell Survival
  • Coculture Techniques
  • DNA-Binding Proteins / metabolism
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Induced Pluripotent Stem Cells* / pathology
  • Male
  • Middle Aged
  • Motor Neurons* / metabolism
  • Motor Neurons* / pathology
  • Mutation

Substances

  • DNA-Binding Proteins