Lamin B1 and nuclear morphology in peripheral cells as new potential biomarkers to follow treatment response in Huntington's disease

In neurodegenerative diseases, neuronal dysfunction and degeneration start many years before the emergence of clinical symptoms. An important goal to advance in their knowledge and treatment is the identification of peripherical biomarkers to predict the onset and progression and to test the efficac...

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Detalles Bibliográficos
Autores: García Forn, Marta, Castany Pladevall, Carla, Golbano, Arantxa, Pérez Pérez, Jesús, Brito, Verónica, Kilisevsky, Jaime, Pérez Navarro, Ester
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/218920
Acceso en línea:https://hdl.handle.net/2445/218920
Access Level:acceso abierto
Palabra clave:Medicina experimental
Corea de Huntington
Marcadors bioquímics
Experimental medicine
Huntington's chorea
Biochemical markers
Descripción
Sumario:In neurodegenerative diseases, neuronal dysfunction and degeneration start many years before the emergence of clinical symptoms. An important goal to advance in their knowledge and treatment is the identification of peripherical biomarkers to predict the onset and progression and to test the efficacy of therapies. 1 We have previously shown that alterations in lamin B1, a member of the lamin family of proteins that are crucial for nuclear functionality, 2 are involved in the pathophysiology of Huntington's disease (HD). Specifically, lamin B1 levels are increased in the R6/1 HD mouse model at the onset of motor symptoms in striatal medium‐sized spiny and CA1 hippocampal neurons nuclei in correlation with nuclear dysfunction. 3 Therefore, we asked if increased lamin B1 levels and/or alterations in nuclear morphology could be also occurring in more accessible cells, namely fibroblasts and blood cells, and serve as biomarkers of the disease progression and/or treatment efficacy.