Blümcke I, Kobow K, Karandasheva K (2024)
Publication Type: Journal article
Publication year: 2024
Book Volume: 65
Pages Range: 294
Article Number: 133
Issue: S1
DOI: 10.1111/epi.18151
Purpose: Epilepsy is a complex neurological condition
often associated with genomic and epigenomic alterations.
While alterations in epigenetic modifications like
DNA methylation, histone modifications, and non-coding
RNAs have been reported in focal epilepsy, the role of
chromatin remodelling and the 3D architecture of chromatin
conformation remain unexplored. This research
seeks to bridge this gap by examining deep-sequenced
Hi-C
data from focal epilepsy patients, thus deepening our
understanding of its molecular mechanisms.
Method: We implemented Hi-C
analysis in human surgical
brain samples from focal lesional epilepsy patients and
non-epilepsy
autopsy controls. Libraries were sequenced
on Novaseq X and a mean of 2.5 billion reads per sample
were generated covering the whole genome. Our analysis
using Juicer, Hint, and HiCExplorer tools focused on
identifying epilepsy-specific
characteristics of chromatin
architecture at various levels of its organisation.
Results: Our preliminary findings reveal distinct changes
in chromatin conformation in epilepsy samples compared
to controls, including a shift towards a denser chromatin
state, disrupting standard compartmentalisation patterns.
Conclusion: Alterations in chromatin interaction patterns
indicate a potential gene regulatory mechanism
likely contributing to seizure development and progression.
These insights from Hi-C
analysis may shed new
light on the chromatin dynamics in epilepsy, paving the
way for future research into chromatin conformation as a
therapeutic target in epilepsy management.
APA:
Blümcke, I., Kobow, K., & Karandasheva, K. (2024). Chromatin conformation changes in focal lesional epilepsy: Insights from Hi-C analysis. Epilepsia, 65, 294. https://doi.org/10.1111/epi.18151
MLA:
Blümcke, Ingmar, Katja Kobow, and Kristina Karandasheva. "Chromatin conformation changes in focal lesional epilepsy: Insights from Hi-C analysis." Epilepsia 65 (2024): 294.
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