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Title: iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology.
Authors: Matamoros-Angles, Andreu
Gayosso, Lucía Mayela
Richaud-Patin, Yvonne
di Domenico, Angelique
Vergara, Cristina
Hervera, Arnau
Sousa, Amaya
Fernández-Borges, Natalia
Consiglio, Antonella
Gavín, Rosalina
López de Maturana, Rakel
Ferrer, Isidro
López de Munain, Adolfo
Raya, Ángel
Castilla, Joaquín
Sánchez-Pernaute, Rosario
Del Río, José Antonio
Keywords: Cellular prion protein;Gerstmann-Sträussler-Scheinker;Induced pluripotent stem cells;Tau
metadata.dc.subject.mesh: Astrocytes
Base Sequence
Cell Differentiation
Cells, Cultured
Gerstmann-Straussler-Scheinker Disease
Induced Pluripotent Stem Cells
Middle Aged
Prion Proteins
tau Proteins
Issue Date: 2-May-2017
Abstract: Gerstmann-Sträussler-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.
metadata.dc.identifier.doi: 10.1007/s12035-017-0506-6
Appears in Collections:Producción 2020

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