ArticleExperimental neurology2016
C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells.
Article in Experimental neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 29 citations in OpenAlex.
- Patient-derived induced pluripotent stem cells with a C9orf72 expansion as a model to study frontotemporal dementia pathologies.Molecular biology of the cell · 2025Article
- Exploring epigenetic modifications as potential biomarkers and therapeutic targets in amyotrophic lateral sclerosis.Journal of neurology · 2025Review
- The epigenetic modification of DNA methylation in neurological diseases.Frontiers in immunology · 2024Review
- Engineering considerations of iPSC-based personalized medicine.Biomaterials research · 2023Review
- CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro.Nature communications · 2022Article
- The Neuroepigenetic Landscape of Vertebrate and Invertebrate Models of Neurodegenerative Diseases.Epigenetics insights · 2022Review
- Epigenetic Small Molecules Rescue Nucleocytoplasmic Transport and DNA Damage Phenotypes in C9ORF72 ALS/FTD.Brain sciences · 2021Article
- Differential Epigenetic Signature of Corticospinal Motor Neurons in ALS.Brain sciences · 2021Article
- Functional genomics, genetic risk profiling and cell phenotypes in neurodegenerative disease.Neurobiology of disease · 2020Review
- C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?Acta neuropathologica · 2020Review
- Review
- Dipeptide repeat proteins inhibit homology-directed DNA double strand break repair in C9ORF72 ALS/FTD.Molecular neurodegeneration · 2020Article
- Insights into C9ORF72-Related ALS/FTD from Drosophila and iPSC Models.Trends in neurosciences · 2018Review
- A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD.Molecular neurodegeneration · 2017Article
- Axonal Degeneration during Aging and Its Functional Role in Neurodegenerative Disorders.Frontiers in neuroscience · 2017Review
- The FMR1 promoter is selectively hydroxymethylated in primary neurons of fragile X syndrome patients.Human molecular genetics · 2016Article
- Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells.Stem cell reports · 2016Article
- ALS and FTD: an epigenetic perspective.Acta neuropathologica · 2016Review
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
Abstract
Among several genetic mutations known to cause amyotrophic lateral sclerosis (ALS), a hexanucleotide repeat expansion in the C9orf72 gene is the most common. In approximately 30% of C9orf72-ALS cases, 5-methylcytosine (5mC) levels within the C9orf72 promoter are increased, resulting in a modestly attenuated phenotype. The developmental timing of C9orf72 promoter hypermethylation and the reason why it occurs in only a subset of patients remain unknown. In order to model the acquisition of C9orf72 hypermethylation and examine the potential role of 5-hydroxymethylcytosine (5hmC), we generated induced pluripotent stem cells (iPSCs) from an ALS patient with C9orf72 promoter hypermethylation. Our data show that 5mC levels are reduced by reprogramming and then re-acquired upon neuronal specification, while 5hmC levels increase following reprogramming and are highest in iPSCs and motor neurons. We confirmed the presence of 5hmC within the C9orf72 promoter in post-mortem brain tissues of hypermethylated patients. These findings show that iPSCs are a valuable model system for examining epigenetic perturbations caused by the C9orf72 mutation and reveal a potential role for cytosine demethylation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.