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Epigenetic differences at the HTR2A locus in progressive multiple sclerosis patients.

Vicki E Maltby1,2, Rodney A Lea2,3, Sean Burnard2,4

  • 1School of Medicine and Public Health, University of Newcastle, Callaghan, NSW, 2308, Australia.

Scientific Reports
|December 18, 2020
PubMed
Summary

Investigating DNA methylation in progressive multiple sclerosis (MS) CD4+ T cells revealed significant differences in HTR2A, SLC17A9, and HDAC4. This differential methylation at HTR2A may serve as a biomarker for progressive MS.

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Area of Science:

  • Immunology
  • Neuroscience
  • Genetics

Background:

  • The underlying pathology of progressive multiple sclerosis (MS) remains largely unknown.
  • Previous research identified differentially methylated regions (DMRs) in HLA-DRB1 and RNF39 in relapsing-remitting MS (RRMS) CD4+ T cells.

Purpose of the Study:

  • To investigate DNA methylation profiles in the CD4+ T cells of patients with progressive MS.
  • To identify potential epigenetic biomarkers distinguishing progressive MS from other forms of the disease.

Main Methods:

  • DNA methylation analysis was performed on CD4+ T cells from two independent case/control cohorts using Illumina 450K/EPIC arrays.
  • Data analysis involved the Chip Analysis Methylation Pipeline (ChAMP), PLINK for SNP assessment, and R (Limma, Illuminaio) for expression analysis.
  • Single nucleotide polymorphisms (SNPs) and gene expression were also assessed to correlate with methylation changes.

Main Results:

  • Three DMRs at HTR2A, SLC17A9, and HDAC4 were consistently identified across both progressive MS cohorts.
  • The DMR at HTR2A remained significant even after accounting for regional single nucleotide polymorphisms (SNPs).
  • No significant changes in gene expression were detected in the identified DMRs, suggesting methylation is independent of expression in this context.

Conclusions:

  • Differential methylation at HTR2A in CD4+ T cells is a distinct feature of progressive MS, independent of genetic variations.
  • This HTR2A methylation pattern is not observed in relapsing-remitting MS, indicating its potential as a specific biomarker for progressive disease.
  • Further research is warranted to elucidate the functional impact of HTR2A differential methylation in progressive MS pathogenesis.