Transposable Elements in TDP-43-Mediated Neurodegenerative Disorders
Open accessAbstract
Elevated expression of specific transposable elements (TEs) has been observed in several neurodegenerative disorders. TEs also can be active during normal neurogenesis. By mining a series of deep sequencing datasets of protein-RNA interactions and of gene expression profiles, we uncovered extensive binding of TE transcripts to TDP-43, an RNA-binding protein central to amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). Second, we find that association between TDP-43 and many of its TE targets is reduced in FTLD patients. Third, we discovered that a large fraction of the TEs to which TDP-43 binds become de-repressed in mouse TDP-43 disease models. We propose the hypothesis that TE mis-regulation contributes to TDP-43 related neurodegenerative diseases.
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The extent to which transposable elements are involved in human disorders and drive disease pathogenesis is currently unknown.
“While transposable element activation has also been implicated in cancer6, and TDP-43 mediated neurodegeneration7–9, the extent to which transposable elements are involved in human disorders and drive disease pathogenesis is currently unknown.”
From Pathogenic tau-induced piRNA depletion promotes neuronal death through transposable element dysregulation in neurodegenerative tauopathies (2018) · cites this paper as [7]
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- Authors
- Li, W., Jin, Y., Prazak, L., Hammell, M., & Dubnau, J.
- Affiliations
- Cold Spring Harbor Laboratory (US)
- Corresponding author
- Hammell, Molly
- Dubnau, Josh
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2012-09-05
- Volume
- 7
- Issue
- 9
- Pages
- e44099
- ISSN
- 1932-6203 (ISSN-L)
- PMC
- PMC3434193
- OpenAlex
- W2023453519
- Cited by
- 195
- References
- 41
- Citations by year
- 2026: 7 · 2025: 12 · 2024: 15 · 2023: 13 · 2022: 22 · 2021: 22 · 2020: 23 · 2019: 20 · 2018: 18 · 2017: 16 · 2016: 6 · 2015: 8 · 2014: 10 · 2013: 3
- FWCI
- 4.39
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS ONE (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- Funders
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke (TR01 5R01NS067690-03, R01NS067690)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Keywords
- transposable elements, TDP-43, amyotrophic lateral sclerosis, frontotemporal lobar degeneration, neurodegenerative diseases, RNA-protein interactions, gene expression dysregulation, RNA-binding proteins
- MeSH terms
- Animals, DNA Transposable Elements, DNA-Binding Proteins, Frontal Lobe, Humans, Molecular Sequence Data, Neurons, Protein Binding, RNA, Models, Statistical, Case-Control Studies, Genome, Neurodegenerative Diseases, Gene Expression Profiling, Mice, Rats
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