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

A Serio, B Bilican, SJ Barmada… - Proceedings of the …, 2013 - National Acad Sciences
A Serio, B Bilican, SJ Barmada, DM Ando, C Zhao, R Siller, K Burr, G Haghi, D Story…
Proceedings of the National Academy of Sciences, 2013National Acad Sciences
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 tran s active 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 …
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.
National Acad Sciences