Sanchez-Mut, Jose V.Dierssen Sotos, MaraEsteller, Manel2025-01-132025-01-132013Sanchez-Mut JV, Aso E, Panayotis N, Lott I, Dierssen M, Rabano A, et al. DNA methylation map of mouse and human brain identifies target genes in Alzheimer’s disease. Brain. 2013 Oct;136(10):3018-27. DOI: 10.1093/brain/awt2371460-2156http://hdl.handle.net/10230/69059The central nervous system has a pattern of gene expression that is closely regulated with respect to functional and anatomical regions. DNA methylation is a major regulator of transcriptional activity, and aberrations in the distribution of this epigenetic mark may be involved in many neurological disorders, such as Alzheimer’s disease. Herein, we have analysed 12 distinct mouse brain regions according to their CpG 5’-end gene methylation patterns and observed their unique epigenetic landscapes. The DNA methylomes obtained from the cerebral cortex were used to identify aberrant DNA methylation changes that occurred in two mouse models of Alzheimer’s disease. We were able to translate these findings to patients with Alzheimer’s disease, identifying DNA methylation-associated silencing of three targets genes: thromboxane A2 receptor (TBXA2R), sorbin and SH3 domain containing 3 (SORBS3) and spectrin beta 4 (SPTBN4). These hypermethylation targets indicate that the cyclic AMP response element-binding protein (CREB) activation pathway and the axon initial segment could contribute to the disease.application/pdfeng© The Author (2013). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited.info:eu-repo/semantics/articlehttp://dx.doi.org/10.1093/brain/awt237DNA methylationAlzheimer’s diseaseBrain regionsEpigeneticsinfo:eu-repo/semantics/openAccess