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Title: iPS cell cultures from a Gerstmann-Straussler-Scheinker patient with the Y218N PRNP mutation recapitulate tau pathology
Author: Matamoros i Anglès, Andreu
Mayela Gayosso, Lucia
Richaud-Patin, Yvonne
Domenico, Angelique Di
Vergara Paños, Cristina
Hervera Abad, Arnau
Sousa, Amaia
Fernández Borges, Natalia
Consiglio, Antonella
Gavín Marín, Rosalina
López de Maturana, Rakel
Ferrer, Isidro (Ferrer Abizanda)
López de Munain, Adolfo
Raya Chamorro, Ángel
Castilla, Joaquín
Sanchez-Pernaute, Rosario
Río Fernández, José Antonio del
Keywords: Genètica
Cèl·lules mare
Mutació (Biologia)
Stem cells
Mutation (Biology)
Issue Date: 1-Apr-2018
Publisher: Humana Press.
Abstract: Gerstmann-Straussler-Scheinker (GSS) syndrome is a fatal autosomal dominant neurodegenerative prionopathy clinically characterized by ataxia, spastic paraparesis, extrapyramidal signs and dementia. In some GSS familiar cases carrying point mutations in the PRNP gene, patients also showed comorbid tauopathy leading to mixed pathologies. In this study we developed an induced pluripotent stem (iPS) cell model derived from fibroblasts of a GSS patient harboring the Y218N PRNP mutation, as well as an age-matched healthy control. This particular PRNP mutation is unique with very few described cases. One of the cases presented neurofibrillary degeneration with relevant Tau hyperphosphorylation. Y218N iPS-derived cultures showed relevant astrogliosis, increased phospho-Tau, altered microtubule-associated transport and cell death. However, they failed to generate proteinase K-resistant prion. In this study we set out to test, for the first time, whether iPS cell-derived neurons could be used to investigate the appearance of disease-related phenotypes (i.e, tauopathy) identified in the GSS patient.
Note: Versió postprint del document publicat a:
It is part of: Molecular Neurobiology, 2018, vol. 55, num. 4, p. 3033-3048
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ISSN: 0893-7648
Appears in Collections:Articles publicats en revistes (Patologia i Terapèutica Experimental)
Articles publicats en revistes (Biologia Cel·lular, Fisiologia i Immunologia)

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