Methylome analysis of FTLD patients with TDP-43 pathology identifies epigenetic signatures specific to pathological subtypes

Summary

We identify methylation changes in all FTLD-TDP patient groups and show that most changes are unique to a specific pathological FTLD-TDP subtype, suggesting that these subtypes not only have distinct transcriptomic and genetic signatures, but are also epigenetically distinct. Our study constitutes an invaluable resource to the community and highlights the need for further studies to profile additional epigenetic layers within each FTLD-TDP pathological subtype. © 2025. The Author(s).

Authors Vicente CT, Niranjan T, Coopman E, Faura J, Alidadiani S, Schrauwen C, Matchett BJ, Heeman B, Van den Broeck M, De Coster W, Nguyen T, Lau JS, Baheti S, de Pooter T, De Rijk P, Strazisar M, Baker M, DeJesus-Hernandez M, Finch NA, Pottier C, van Blitterswijk M, Asmann Y, Murray ME, Petrucelli L, King A, Troakes C, Al-Sarraj S, Rissman RA, Hiniker A, Flanagan M, Evers BM, White CL 3rd, Cruchaga C, Castellani R, van Rooij JGJ, Mol MO, Seelaar H, van Swieten JC, Oskarsson B, Reichard RR, Nguyen AT, Josephs KA, Petersen RC, Ertekin-Taner N, Boeve BF, Graff-Radford NR, Weckhuysen S, Dickson DW, Rademakers R
Journal Molecular neurodegeneration
Publication Date 2025 Jul 6;20(1):80
PubMed 40619440
PubMed Central PMC12232778
DOI 10.1186/s13024-025-00869-2

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