Epigenome-wide association study of human frontal cortex identifies differential methylation in Lewy body pathology.


Journal

Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555

Informations de publication

Date de publication:
22 08 2022
Historique:
received: 17 10 2021
accepted: 09 08 2022
entrez: 22 8 2022
pubmed: 23 8 2022
medline: 25 8 2022
Statut: epublish

Résumé

Parkinson's disease (PD) and dementia with Lewy bodies (DLB) are closely related progressive disorders with no available disease-modifying therapy, neuropathologically characterized by intraneuronal aggregates of misfolded α-synuclein. To explore the role of DNA methylation changes in PD and DLB pathogenesis, we performed an epigenome-wide association study (EWAS) of 322 postmortem frontal cortex samples and replicated results in an independent set of 200 donors. We report novel differentially methylated replicating loci associated with Braak Lewy body stage near TMCC2, SFMBT2, AKAP6 and PHYHIP. Differentially methylated probes were independent of known PD genetic risk alleles. Meta-analysis provided suggestive evidence for a differentially methylated locus within the chromosomal region affected by the PD-associated 22q11.2 deletion. Our findings elucidate novel disease pathways in PD and DLB and generate hypotheses for future molecular studies of Lewy body pathology.

Identifiants

pubmed: 35995800
doi: 10.1038/s41467-022-32619-z
pii: 10.1038/s41467-022-32619-z
pmc: PMC9395387
doi:

Substances chimiques

alpha-Synuclein 0

Types de publication

Journal Article Meta-Analysis Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

4932

Subventions

Organisme : Medical Research Council
ID : MR/W004984/1
Pays : United Kingdom

Commentaires et corrections

Type : CommentIn

Informations de copyright

© 2022. The Author(s).

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Auteurs

Lasse Pihlstrøm (L)

Department of Neurology, Oslo University Hospital, Oslo, Norway. lasse.pihlstrom@medisin.uio.no.

Gemma Shireby (G)

University of Exeter Medical School, College of Medicine and Health, University of Exeter, Exeter, UK.

Hanneke Geut (H)

Amsterdam UMC, Vrije Universiteit, Department of Anatomy and Neurosciences, Amsterdam Neuroscience, Amsterdam, The Netherlands.
Netherlands Brain Bank, Netherlands Institute of Neurosciences, Amsterdam, The Netherlands.

Sandra Pilar Henriksen (SP)

Department of Neurology, Oslo University Hospital, Oslo, Norway.

Annemieke J M Rozemuller (AJM)

Amsterdam UMC, Vrije Universiteit, Department of Pathology, Amsterdam Neuroscience, Amsterdam, The Netherlands.

Jon-Anders Tunold (JA)

Department of Neurology, Oslo University Hospital, Oslo, Norway.
Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

Eilis Hannon (E)

University of Exeter Medical School, College of Medicine and Health, University of Exeter, Exeter, UK.

Paul Francis (P)

University of Exeter Medical School, College of Medicine and Health, University of Exeter, Exeter, UK.

Alan J Thomas (AJ)

Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, UK.

Seth Love (S)

Dementia Research Group, Bristol Medical School, University of Bristol, Bristol, UK.

Jonathan Mill (J)

University of Exeter Medical School, College of Medicine and Health, University of Exeter, Exeter, UK.

Wilma D J van de Berg (WDJ)

Amsterdam UMC, Vrije Universiteit, Department of Anatomy and Neurosciences, Amsterdam Neuroscience, Amsterdam, The Netherlands.

Mathias Toft (M)

Department of Neurology, Oslo University Hospital, Oslo, Norway.
Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

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