Immortalized human Myotonic dystrophy type 1 muscle cell lines to address patient heterogeneity

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dc.contributor.authorNúñez Manchón, Judit
dc.contributor.authorCapó, Júlia
dc.contributor.authorMartínez Piñeiro, Alicia
dc.contributor.authorJuanola, Eduard
dc.contributor.authorPesovic, Jovan
dc.contributor.authorMosqueira Martín, Laura
dc.contributor.authorGonzález Imaz, Klaudia
dc.contributor.authorMaestre Mora, Pau
dc.contributor.authorOdria, Renato
dc.contributor.authorCerro Herreros, Estefanía
dc.contributor.authorNaldaiz Gastesi, Neia
dc.contributor.authorLópez de Munain Arregui, Adolfo
dc.contributor.authorArtero Allepuz, Rubén
dc.contributor.authorSavic-Pavicevic, Dusanka
dc.contributor.authorVallejo Illarramendi, Ainara
dc.contributor.authorMamchaoui, Kamel
dc.contributor.authorBigot, Anne
dc.contributor.authorMouly, Vincent
dc.contributor.authorSuelves Esteban, Mónica
dc.contributor.authorNogales-Gadea, Gisela
dc.date.accessioned2026-04-27T07:54:30Z
dc.date.available2026-04-27T07:54:30Z
dc.date.issued2024-06-21
dc.date.updated2026-04-27T07:54:30Z
dc.description.abstractHistorically, cellular models have been used as a tool to study myotonic dystrophy type 1 (DM1) and the validation of therapies in said pathology. However, there is a need for in vitro models that represent the clinical heterogeneity observed in patients with DM1 that is lacking in classical models. In this study, we immortalized three DM1 muscle lines derived from patients with different DM1 subtypes and clinical backgrounds and characterized them at the genetic, epigenetic, and molecular levels. All three cell lines display DM1 hallmarks, such as the accumulation of RNA foci, MBNL1 sequestration, splicing alterations, and reduced fusion. In addition, alterations in early myogenic markers, myotube diameter and CTCF1 DNA methylation were also found in DM1 cells. Notably, the new lines show a high level of heterogeneity in both the size of the CTG expansion and the aforementioned molecular alterations. Importantly, these immortalized cells also responded to previously tested therapeutics. Altogether, our results show that these three human DM1 cellular models are suitable to study the pathophysiological heterogeneity of DM1 and to test future therapeutic options.en
dc.description.sponsorshipThis research was funded by Instituto de Salud Carlos III grant number PI18/00713 and PI22/00104 (G. Nogales-Gadea), Grants (#21108; #24757) from AFM-Telethon (G. Nogales-Gadea), Ministerio de Ciencia e Innovación grant numbers PID2020-118730RB-I00 (M. Suelves) and PID2020-119780RB-I00 (A. Vallejo-Illarramendi). This work was funded by the Grant CPP2022-009960 and the Grant CNS2022-135519 by MICIU/AEI/10.13039/501100011033 and, by the ‘‘European UnionNextGenerationEU/PRTR’’ (Gisela Nogales Gadea). Departamento de Salud del Gobierno Vasco grant number 2022111045 (A. Vallejo-Illarramendi), IDEA Grant (#7754217 – READ-DM1) funded by the Science Fund of the Republic of Serbia (J. Pesovic, D. Savic-Pavicevic), and Grant Project (#23557) from AFM-Telethon (M. Suelves), and co-financed by Fondos FEDER. J. Nuñez-Manchón is funded by Instituto de Salud Carlos III I-PFIS fellowship (grant number IFI20/00022). G. Nogales-Gadea is supported by a Miguel Servet research contract (Instituto de Salud arlos III CPII19/00021, and FEDER). Pau Maestre is supported by an Investigo Program from Generalitat de Catalunya (100008TC1). Laura Mosqueira-Martin is supported by a PhD fellowship from UPV/EHU. E. Juanola is funded by Rio Hortega Instituto de Salud Carlos III (grant number CM21/00041).en
dc.identifier.citationNúñez-Manchón, J., Capó, J., Martínez-Piñeiro, A., Juanola, E., Pesovic, J., Mosqueira-Martín, L., González-Imaz, K., Maestre-Mora, P., Odria, R., Savic-Pavicevic, D., Vallejo-Illarramendi, A., Mamchaoui, K., Bigot, A., Mouly, V., Suelves, M., Nogales-Gadea, G., Cerro Herreros, E., Naldaiz Gastesi, N., López de Munain, A., & Artero, R. (2024). Immortalized human Myotonic dystrophy type 1 muscle cell lines to address patient heterogeneity. iScience, 27(6). https://doi.org/10.1016/J.ISCI.2024.109930
dc.identifier.doi10.1016/J.ISCI.2024.109930
dc.identifier.eissn2589-0042
dc.identifier.urihttps://hdl.handle.net/20.500.14454/5771
dc.language.isoeng
dc.publisherElsevier Inc.
dc.rights© 2024 The Authors. Published by Elsevier Inc.
dc.subject.otherBiological sciences
dc.subject.otherCell biology
dc.subject.otherEpigenetics
dc.subject.otherHealth sciences
dc.subject.otherMolecular biology
dc.titleImmortalized human Myotonic dystrophy type 1 muscle cell lines to address patient heterogeneityen
dc.typejournal article
dcterms.accessRightsopen access
oaire.citation.issue6
oaire.citation.titleiScience
oaire.citation.volume27
oaire.licenseConditionhttps://creativecommons.org/licenses/by/4.0/
oaire.versionCVoR
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