Effects of TDP-43 Pathology on Innate Antiviral Mechanisms in Neurodegenerative Disease

NIH RePORTER · NIH · F31 · $46,752 · view on reporter.nih.gov ↗

Abstract

Project Summary/Abstract Dysregulation of transactivating response region DNA-binding protein-43 (TDP-43) has been linked to many neurodegenerative diseases, including frontotemporal dementia, amyotrophic lateral sclerosis, and Alzheimer’s disease (AD). TDP-43 has a variety of functions linked to its RNA-binding motif, including regulation of transcription, splicing, and RNA transport. Along with these effects, TDP-43 alters expression of interferon (IFN)- related and other immune genes essential for antiviral responses. The relationship between viral pathogens and TDP-43 is bidirectional, as exposure to poly(I:C), which simulates viral pathogens, can promote subcellular mislocalization of TDP-43. Viral pathogens, like TDP-43 dysregulation, are linked to AD and other dementias; AD has been associated with increased presence of viral pathogens, like herpes simplex virus 1 (HSV-1), and altered IFN-related signaling and neuroimmune cascades. Our laboratory found that, like neuronal TDP-43, astrocytic TDP-43 can be mislocalized to the cytoplasm in AD. Dysregulation of astrocytic TDP-43 in mouse models caused neural deficits and cell-autonomous changes in antiviral and IFN-inducible factors. Further, dysregulated TDP-43 increased astrocytic susceptibility to HSV-1. Astrocytic susceptibility to HSV-1 associated with overexpression of human TDP-43 was reduced by blocking the ability of human TDP-43 to bind RNA. Previous studies also show that the RNA-binding domain on TDP-43 is necessary for its other disease-linked effects. Based on this evidence, I will test the hypothesis that dementia-related TDP-43 dysfunction affects antiviral pathways and increases neural susceptibility to HSV-1 by altering TDP-43 binding to host RNA, resulting in aberrant host antiviral and immune gene expression and impaired innate antiviral signaling. I propose to use a variety of cellular and molecular techniques to examine in vitro (Aim 1.1) and in vivo (Aim 1.2) susceptibility to HSV-1 following cell-specific expression of TDP-43 variants that either maintain nuclear localization, mislocalize to the cytoplasm, cannot bind to RNA, or both. I will also determine cell-specific molecular mechanisms that promote differences in antiviral pathways via single-cell RNA sequencing (Aim 2.1), and conduct targeted analysis of alternative splicing (ScISOr-Seq), transposable element expression (TEtranscripts), and protein levels (Western blotting). Finally, I will examine the physiological functions of differential genes of interest identified in Aim 2.1 using genetic and pharmacological approaches. Uncovering the mechanistic links that connect TDP-43 dysregulation to antiviral pathways and viral susceptibility may define new pathobiological mechanisms and therapeutic targets to prevent neurodegenerative disease onset and progression.

Key facts

NIH application ID
10537727
Project number
1F31AG079616-01
Recipient
WEILL MEDICAL COLL OF CORNELL UNIV
Principal Investigator
Stephanie Jackvony
Activity code
F31
Funding institute
NIH
Fiscal year
2022
Award amount
$46,752
Award type
1
Project period
2022-09-01 → 2025-08-31