2026-04-14T05:57:13Zhttps://recercat.cat/oai/requestoai:recercat.cat:2072/4852222025-08-31T18:17:21Zcom_2072_98col_2072_378192
RECERCAT
author
Núñez-Manchón, Judith
author
Capó, Júlia
author
Martínez-Piñeiro, Alicia
author
Juanola, Eduard
author
Pesovic, Jovan
author
Mosqueira-Martín, Laura
author
González-Imaz, Klaudia
author
Maestre-Mora, P.
author
Odria, Renato
author
Savic-Pavicevic, Dusanka
author
Vallejo-Illarramendi, Ainara
author
Mamchaoui, Kamel
author
Bigot, Anne
author
Mouly, Vicent
author
Suelves, Mònica
author
Nogales, Gisela
author
Universitat Autònoma de Barcelona
2025-08-31T18:17:21Z
2025-08-31T18:17:21Z
2024
http://hdl.handle.net/2072/485222
Historically, 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.
open access Aquest material està protegit per drets d'autor i/o drets afins. Podeu utilitzar aquest material en funció del que permet la legislació de drets d'autor i drets afins d'aplicació al vostre cas. Per a d'altres usos heu d'obtenir permís del(s) titular(s) de drets. https://rightsstatements.org/vocab/InC/1.0/
Immortalized human myotonic dystrophy type 1 muscle cell lines to address patient heterogeneity
Article