The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy

The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy

Mutation of LMNA, encoding Lamin A/C nuclear proteins, cause dilated cardiomyopathy and conduction disorders. Here, the authors show that patient-specific iPSC-derived CMs carrying the K219T LMNA mutation have downregulated Nav1.5 channels due to dynamic cooperation of Lamin A/C and Polycomb repress...

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Autores principales: Nicolò Salvarani, Silvia Crasto, Michele Miragoli, Alessandro Bertero, Marianna Paulis, Paolo Kunderfranco, Simone Serio, Alberto Forni, Carla Lucarelli, Matteo Dal Ferro, Veronica Larcher, Gianfranco Sinagra, Paolo Vezzoni, Charles E. Murry, Giuseppe Faggian, Gianluigi Condorelli, Elisa Di Pasquale
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
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Acceso en línea:https://doaj.org/article/975fc60819e84ad6adb18ec63c887d5c
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Sumario:Mutation of LMNA, encoding Lamin A/C nuclear proteins, cause dilated cardiomyopathy and conduction disorders. Here, the authors show that patient-specific iPSC-derived CMs carrying the K219T LMNA mutation have downregulated Nav1.5 channels due to dynamic cooperation of Lamin A/C and Polycomb repressor complex 2 at the SCN5A promoter.

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