[PDF][PDF] RNA binding antagonizes neurotoxic phase transitions of TDP-43

JR Mann, AM Gleixner, JC Mauna, E Gomes… - Neuron, 2019 - cell.com
JR Mann, AM Gleixner, JC Mauna, E Gomes, MR DeChellis-Marks, PG Needham…
Neuron, 2019cell.com
TDP-43 proteinopathy is a pathological hallmark of amyotrophic lateral sclerosis and
frontotemporal dementia where cytoplasmic TDP-43 inclusions are observed within
degenerating regions of patient postmortem tissue. The mechanism by which TDP-43
aggregates has remained elusive due to technological limitations, which prevent the
analysis of specific TDP-43 interactions in live cells. We present an optogenetic approach to
reliably induce TDP-43 proteinopathy under spatiotemporal control. We show that the …
Summary
TDP-43 proteinopathy is a pathological hallmark of amyotrophic lateral sclerosis and frontotemporal dementia where cytoplasmic TDP-43 inclusions are observed within degenerating regions of patient postmortem tissue. The mechanism by which TDP-43 aggregates has remained elusive due to technological limitations, which prevent the analysis of specific TDP-43 interactions in live cells. We present an optogenetic approach to reliably induce TDP-43 proteinopathy under spatiotemporal control. We show that the formation of pathologically relevant inclusions is driven by aberrant interactions between low-complexity domains of TDP-43 that are antagonized by RNA binding. Although stress granules are hypothesized to be a conduit for seeding TDP-43 proteinopathy, we demonstrate pathological inclusions outside these RNA-rich structures. Furthermore, we show that aberrant phase transitions of cytoplasmic TDP-43 are neurotoxic and that treatment with oligonucleotides composed of TDP-43 target sequences prevent inclusions and rescue neurotoxicity. Collectively, these studies provide insight into the mechanisms that underlie TDP-43 proteinopathy and present a potential avenue for therapeutic intervention.
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