DNA methylation study of Huntington's disease and motor progression in patients and in animal models.

Adolescent Adult Aged Aged, 80 and over Animals Animals, Genetically Modified Behavior, Animal CpG Islands / genetics Cross-Sectional Studies DNA Methylation Disease Models, Animal Disease Progression Epigenesis, Genetic Female Follow-Up Studies Gene Knock-In Techniques Genetic Loci Genome-Wide Association Study Global Burden of Disease Humans Huntingtin Protein / genetics Huntington Disease / blood Longitudinal Studies Male Mice Middle Aged Mutation Prospective Studies Recombinant Proteins / genetics Registries / statistics & numerical data Severity of Illness Index Sheep Young Adult

Journal

Nature communications

ISSN: 2041-1723

Titre abrégé: Nat Commun

Pays: England

ID NLM: 101528555

Informations de publication

Date de publication:
10 09 2020

Historique:

received: 24 10 2019

accepted: 14 08 2020

entrez: 11 9 2020

pubmed: 12 9 2020

medline: 2 10 2020

Statut: epublish

Résumé

Although Huntington's disease (HD) is a well studied Mendelian genetic disorder, less is known about its associated epigenetic changes. Here, we characterize DNA methylation levels in six different tissues from 3 species: a mouse huntingtin (Htt) gene knock-in model, a transgenic HTT sheep model, and humans. Our epigenome-wide association study (EWAS) of human blood reveals that HD mutation status is significantly (p < 10

Identifiants

DOI: 10.1038/s41467-020-18255-5 PMID: 32913184 PMC: PMC7484780

pubmed: 32913184

doi: 10.1038/s41467-020-18255-5

pii: 10.1038/s41467-020-18255-5

pmc: PMC7484780

doi:

Substances chimiques

HTT protein, human 0

Htt protein, mouse 0

Huntingtin Protein 0

Recombinant Proteins 0

Types de publication

Journal Article Multicenter Study Observational Study Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

Pagination

4529

Subventions

Organisme : NINDS NIH HHS

ID : P30 NS062691

Pays : United States

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