DNA Methylation Profiles in Whole Blood of Huntington's Disease Patients

Frontiers in Neurology
Maja ZadelB Peterlin

Abstract

Epigenetic mechanisms, especially DNA methylation, are suggested to play a role in the age-of-onset in Huntington's disease (HD) based on studies on patient brains, and cellular and animal models. Methylation is tissue-specific and it is not clear how HD specific methylation in the brain correlates with the blood compartment, which represents a much more clinically accessible sample. Therefore, we explored the presence of HD specific DNA methylation patterns in whole blood on a cohort of HDM and healthy controls from Slovenia. We compared CpG site-specific DNA methylation in whole blood of 11 symptomatic and 9 pre-symptomatic HDM (HDM), and 15 healthy controls, by using bisulfite converted DNA on the Infinium® Human Methylation27 BeadChip microarray (Illumina) covering 27,578 CpG sites and 14,495 genes. Of the examined 14,495 genes, 437 were differentially methylated (p < 0.01) in pre-symptomatic HDM compared to controls, with three genes (CLDN16, DDC, NXT2) retaining statistical significance after the correction for multiple testing (false discovery rate, FDR < 0.05). Comparisons between symptomatic HDM and controls, and the comparison of symptomatic and pre-symptomatic HDM further identified 260 and 198 differentially methyla...Continue Reading

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Citations

May 27, 2021·Neurochemistry International·Jae Wook HyeonHiroko Yano
Jul 29, 2021·Neuropathology and Applied Neurobiology·Megha MurthyConceição Bettencourt

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Methods Mentioned

BETA
histone acetylation
blood collection
protein folding
ELISA

Software Mentioned

Lumi package
ENSEMBL Biomart
R
ComBat
VENN
Bioconductor
MethyLumi

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