Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients
Open accessAbstract
Significant transcriptome alterations are detected in the brain of patients with amyotrophic lateral sclerosis (ALS), including carriers of the C9orf72 repeat expansion and C9orf72-negative sporadic cases. Recently, the expression of repetitive element transcripts has been associated with toxicity and, while increased repetitive element expression has been observed in several neurodegenerative diseases, little is known about their contribution to ALS. To assess whether aberrant expression of repetitive element sequences are observed in ALS, we analysed RNA sequencing data from C9orf72-positive and sporadic ALS cases, as well as healthy controls. Transcripts from multiple classes and subclasses of repetitive elements (LINEs, endogenous retroviruses, DNA transposons, simple repeats, etc.) were significantly increased in the frontal cortex of C9orf72 ALS patients. A large collection of patient samples, representing both C9orf72 positive and negative ALS, ALS/FTLD, and FTLD cases, was used to validate the levels of several repetitive element transcripts. These analyses confirmed that repetitive element expression was significantly increased in C9orf72-positive compared to C9orf72-negative or control cases. While previous studies suggest an important link between TDP-43 and repetitive element biology, our data indicate that TDP-43 pathology alone is insufficient to account for the observed changes in repetitive elements in ALS/FTLD. Instead, we found that repetitive element expression positively correlated with RNA polymerase II activity in postmortem brain, and pharmacologic modulation of RNA polymerase II activity altered repetitive element expression in vitro. We conclude that increased RNA polymerase II activity in ALS/FTLD may lead to increased repetitive element transcript expression, a novel pathological feature of ALS/FTLD.
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Prudencio et al. (2017) did not detect a positive correlation between TDP-43 protein pathology burden and retrotransposon expression.
“Prudencio et al. (2017) did not, however, detect a positive correlation between TDP-43 protein pathology burden and retrotransposon expression.”
From The Role of Retrotransposons and Endogenous Retroviruses in Age-Dependent Neurodegenerative Disorders (2024) · cites this paper as Prudencio et al. 2017
The Results section (‘Accumulation of repetitive elements does not associate with TDP-43’) reports a significant, though mild, positive correlation between pTDP-43 protein levels and repetitive-element transcript expression. The correlation disappeared after adjustment for disease duration, age at death, C9orf72 genotype, and disease subtype. Thus the paper did detect a positive correlation initially, contrary to the claim as stated. (LLM, conf=0.88)
Checked by a reasoning model — may be wrong.
Experimental — accuracy not yet measuredSeveral substantially larger studies have since confirmed the broad upregulation of retrotransposon sequences in subjects with ALS or FTD.
“Several substantially larger studies have since confirmed the broad upregulation of retrotransposon sequences in subjects with ALS or FTD”
From The Role of Retrotransposons and Endogenous Retroviruses in Age-Dependent Neurodegenerative Disorders (2024) · cites this paper as Prudencio et al. 2017
The Results section reports increased repetitive-element transcripts across several classes in C9orf72-positive ALS, ALS/FTLD, and FTLD cases, validated in a larger cohort. But the increase was significant relative to C9orf72-negative cases and controls; the increase in C9orf72-negative cases was not statistically significant. This source therefore supports the finding for a defined subgroup, not broadly for all subjects with ALS or FTD. (LLM, conf=0.88)
Experimental — accuracy not yet measuredA study from the Petrucelli and Link labs reported enrichment of retrotransposon transcripts in a subset of ALS samples from C9orf72 familial disease.
“a study from the Petrucelli and Link labs (Prudencio et al. 2017) reported the enrichment of retrotransposon transcripts in a subset of ALS samples from C9orf72 familial disease”
From The Role of Retrotransposons and Endogenous Retroviruses in Age-Dependent Neurodegenerative Disorders (2024) · cites this paper as Prudencio et al. 2017
In each of several studies, retrotransposon expression was found to be elevated in ALS or FTD samples.
“In each case, retrotransposon expression was found to be elevated in ALS or FTD samples.”
From The Role of Retrotransposons and Endogenous Retroviruses in Age-Dependent Neurodegenerative Disorders (2024) · cites this paper as Prudencio et al. 2017
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- Authors
- Prudencio, M., Gonzales, P. K., Cook, C. N., Gendron, T. F., Daughrity, L. M., Song, Y., Ebbert, M. T. W., van Blitterswijk, M., Zhang, Y.-J., Jansen-West, K., Baker, M. C., DeTure, M., Rademakers, R., Boylan, K. B., Dickson, D. W., Petrucelli, L., & Link, C. D.
- Affiliations
- Mayo Clinic (US)
- Integrative Physiology, Institute for Behavioral Genetics University of Colorado, CO 80309, USA
- Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
- Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
- Corresponding author
- Petrucelli, Leonard
- ORCID
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2017-06-16
- Volume
- 26
- Issue
- 17
- Pages
- 3421-3431
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC5886204
- OpenAlex
- W2626250818
- Cited by
- 122
- References
- 54
- Citations by year
- 2026: 12 · 2025: 14 · 2024: 11 · 2023: 14 · 2022: 13 · 2021: 13 · 2020: 11 · 2019: 18 · 2018: 13 · 2017: 3
- FWCI
- 8.57
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Human Molecular Genetics (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- NIH
- National Institute of Neurological Disorders and Stroke
- NINDS (R01NS063964, R21NS089979, R35NS097273, R21NS084528, P01NS084974, P01NS099114, R01NS088689, R01NS093865, R35NS097261, R01NS080882)
- Department of Defense (AL130125)
- Amyotrophic Lateral Sclerosis Association
- Association for Frontotemporal Degeneration
- Muscular Dystrophy Association (#416137)
- National Center for Advancing Translational Sciences
- NCATS
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- amyotrophic lateral sclerosis, frontotemporal lobar degeneration, C9orf72 repeat expansion, TDP-43, lines, endogenous retroviruses, DNA transposons, simple repeats, frontal cortex, neurodegeneration, pharmacological modulation
- MeSH terms
- C9orf72 Protein, Aged, Amyotrophic Lateral Sclerosis, Autopsy, Brain, Female, Frontal Lobe, Heterozygote, Humans, Male, Middle Aged, Mutation, Repetitive Sequences, Nucleic Acid, RNA Polymerase II, Transcriptional Activation, Case-Control Studies, Sequence Analysis, RNA, Neurodegenerative Diseases, DNA Repeat Expansion, Frontotemporal Lobar Degeneration
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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