C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD
Open accessAbstract
Hexanucleotide repeat expansions of C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal degeneration. The mutation is associated with reduced C9orf72 expression and the accumulation of potentially toxic RNA and protein aggregates. CpG methylation is known to protect the genome against unstable DNA elements and to stably silence inappropriate gene expression. Using bisulfite cloning and restriction enzyme-based methylation assays on DNA from human brain and peripheral blood, we observed CpG hypermethylation involving the C9orf72 promoter in cis to the repeat expansion mutation in approximately one-third of C9orf72 repeat expansion mutation carriers. Promoter hypermethylation of mutant C9orf72 was associated with transcriptional silencing of C9orf72 in patient-derived lymphoblast cell lines, resulting in reduced accumulation of intronic C9orf72 RNA and reduced numbers of RNA foci. Furthermore, demethylation of mutant C9orf72 with 5-aza-deoxycytidine resulted in increased vulnerability of mutant cells to oxidative and autophagic stress. Promoter hypermethylation of repeat expansion carriers was also associated with reduced accumulation of RNA foci and dipeptide repeat protein aggregates in human brains. These results indicate that C9orf72 promoter hypermethylation prevents downstream molecular aberrations associated with the hexanucleotide repeat expansion, suggesting that epigenetic silencing of the mutant C9orf72 allele may represent a protective counter-regulatory response to hexanucleotide repeat expansion.
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The GGGGCC repeat expansion suppresses the production of C9ORF72 protein by inhibiting transcription.
“The GGGGCC repeat expansion suppresses the production of C9ORF72 protein by inhibiting transcription (140, 153, 225, 369, 497, 520).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [369]
The Discussion says the repeat expansion is associated with reduced C9orf72 mRNA and protein and with epigenetic marks indicative of transcriptional silencing. The Results (C9orf72 RNA expression in lymphoblast cell lines) link transcriptional silencing specifically to promoter methylation, which the Abstract reports in approximately one-third of expansion carriers. The source therefore does not establish that the expansion itself inhibits transcription and suppresses protein production in all carriers. (LLM, conf=0.88)
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C9orf72/ALFA-1 controls TFEB/HLH-30-dependent metabolism through dynamic regulation of Rag GTPases
Ji, Y. J., Ugolino, J., Zhang, T., Lu, J., Kim, D., & Wang, J. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008738 · Cited by 21 · see citing works
- Authors
- Liu, E. Y., Russ, J., Wu, K., Neal, D., Suh, E., McNally, A. G., Irwin, D. J., Van Deerlin, V. M., & Lee, E. B.
- Affiliations
- University of Pennsylvania (US)
- Corresponding author
- Lee, Edward B.
- Venue
- Acta Neuropathologica
- Published
- 2014-05-08
- Volume
- 128
- Issue
- 4
- Pages
- 525-541
- ISSN
- 0001-6322 (ISSN-L)
- 1432-0533
- PMC
- PMC4161616
- OpenAlex
- W1982725145
- Cited by
- 180
- References
- 68
- Citations by year
- 2026: 4 · 2025: 10 · 2024: 9 · 2023: 7 · 2022: 6 · 2021: 17 · 2020: 15 · 2019: 17 · 2018: 19 · 2017: 20 · 2016: 19 · 2015: 30 · 2014: 7
- FWCI
- 16.52
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Acta Neuropathologica (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Centers for Disease Control and Prevention (ND14442, ND11836, ND16183, ND10966)
- National Institute on Aging (P30AG10125, T32 AG 00255, P30AG010124, P01AG017586, K08AG039510, P01AG032953, T32AG000255)
- National Institute of Neurological Disorders and Stroke (K23NS088341)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- C9orf72, hexanucleotide repeat expansion, amyotrophic lateral sclerosis, frontotemporal lobar degeneration, CpG hypermethylation, promoter hypermethylation, epigenetic silencing, RNA foci, oxidative stress
- MeSH terms
- C9orf72 Protein, Aged, Aged, 80 and over, Amyotrophic Lateral Sclerosis, Analysis of Variance, Cell Line, Transformed, DNA Mutational Analysis, Female, Gene Expression Regulation, Humans, Male, Middle Aged, Mutation, Promoter Regions, Genetic, Proteins, RNA, Messenger, CpG Islands, DNA Methylation, DNA Repeat Expansion, Frontotemporal Dementia
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.
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