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DNA-initiated epigenetic cascades driven by C9orf72 hexanucleotide repeat.

Yang Liu1, Zhiyuan Huang1, Honghe Liu1

  • 1Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA; Department of Neuroscience, School of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA.

Neuron
|February 23, 2023
PubMed
Summary

The C9orf72 hexanucleotide repeat expansion (HRE) causes ALS and FTD by altering DNA and protein interactions. This leads to epigenetic changes that affect gene expression, impacting motor neuron function.

Keywords:
ALSC9orf72DAXXDNAFTDchromatinepigeneticneurodegenerationphase separationtranscription

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Area of Science:

  • Neurogenetics
  • Molecular Biology
  • Epigenetics

Background:

  • The C9orf72 hexanucleotide repeat expansion (HRE) is the primary genetic driver of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
  • Understanding the molecular mechanisms initiated by the C9orf72 HRE is crucial for developing targeted therapies.

Purpose of the Study:

  • To elucidate the pathogenic cascades initiated by the C9orf72 HRE DNA.
  • To investigate the role of DAXX protein in C9orf72-mediated neurodegeneration.
  • To identify potential therapeutic targets by understanding epigenetic regulation.

Main Methods:

  • Investigated the interaction between C9orf72 HRE DNA and DAXX protein.
  • Analyzed DAXX-induced liquid-liquid phase separation and its effect on genomic structures.
  • Examined HRE-dependent nuclear DAXX accumulation and its impact on chromatin remodeling and epigenetic modifications (histone methylation and acetylation) in patient cells.
  • Assessed the regulation of C9orf72 gene expression by DAXX through promoter modifications.
  • Evaluated the effect of DAXX downregulation and epigenetic rebalancing on C9orf72-patient-derived motor neurons.

Main Results:

  • C9orf72 HRE DNA binds to DAXX, inducing liquid-liquid phase separation and genomic reorganization.
  • Nuclear accumulation of DAXX drives chromatin remodeling and epigenetic alterations, including histone hypermethylation and hypoacetylation.
  • DAXX suppresses C9orf72 expression via epigenetic modifications at the promoter region.
  • Downregulating DAXX or rebalancing epigenetic modifications reduces stress-induced sensitivity in patient-derived motor neurons.

Conclusions:

  • The C9orf72 HRE DNA initiates pathogenic cascades through DAXX-mediated genomic and epigenetic alterations.
  • DAXX plays a critical role in regulating C9orf72 expression and contributing to neurodegeneration in ALS and FTD.
  • Targeting DAXX or epigenetic modifications presents a potential therapeutic strategy for C9orf72-related neurodegenerative diseases.