Aberrant epigenome in -derived dopaminergic neurons from Parkinson's disease patients

The epigenomic landscape of Parkinson's disease () remains unknown. We performed a genomewide methylation and a transcriptome studies in induced pluripotent stem cell ()-derived dopaminergic neurons (n) generated by cell reprogramming of somatic skin cells from patients with monogenic 2-associa...

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Detalhes bibliográficos
Autores: Fernández-Santiago, Rubén|||0000-0002-4582-0702, Carballo-Carbajal, Iria|||0000-0002-4403-8006, Castellano, Giancarlo|||0000-0002-5715-7733, Torrent, Roger, Richaud, Yvonne, Sánchez-Danés, Adriana, Vilarrasa-Blasi, Roser, Sánchez, Alex|||0000-0002-8673-7737, Mosquera, José Luis|||0000-0002-7852-4993, Soriano, Jordi, López-Barneo, José, Canals, Josep M.|||0000-0001-6829-7670, Alberch i Vié, Jordi|||0000-0002-8684-2721, Raya, Ángel|||0000-0003-2189-9775, Vila Bover, Miquel|||0000-0002-1352-989X, Consiglio, Antonella, Martín-Subero, José I., Ezquerra, Mario|||0000-0003-3246-6641, Tolosa, Eduardo
Tipo de documento: artigo
Data de publicação:2015
País:España
Recursos:Universitat Autònoma de Barcelona
Repositório:Dipòsit Digital de Documents de la UAB
Idioma:inglês
OAI Identifier:oai:ddd.uab.cat:185461
Acesso em linha:https://ddd.uab.cat/record/185461
https://dx.doi.org/urn:doi:10.15252/emmm.201505439
Access Level:Acceso aberto
Palavra-chave:Methylation
Dopaminergic neuron
Induced pluripotent stem cell
Parkinson's disease
Transcription factor
Chromatin, Epigenetics, Genomics & Functional Genomics
Neuroscience
Stem Cells
Descrição
Resumo:The epigenomic landscape of Parkinson's disease () remains unknown. We performed a genomewide methylation and a transcriptome studies in induced pluripotent stem cell ()-derived dopaminergic neurons (n) generated by cell reprogramming of somatic skin cells from patients with monogenic 2-associated (L2) or sporadic (), and healthy subjects. We observed extensive methylation changes in n, and of expression, which were common in L2 and . No significant methylation differences were present in parental skin cells, undifferentiated s nor -derived neural cultures not-enriched-in-n. These findings suggest the presence of molecular defects in somatic cells which manifest only upon differentiation into the n cells targeted in . The methylation profile from n, but not from controls, resembled that of neural cultures not-enriched-in-n indicating a failure to fully acquire the epigenetic identity own to healthy n in . The -associated hypermethylation was prominent in gene regulatory regions such as enhancers and was related to the and/or protein downregulation of a network of transcription factors relevant to (1, 3C1, 4A, and 2). Using a patient-specific -based n model, our study provides the first evidence that epigenetic deregulation is associated with monogenic and sporadic PD.