IPS Cell Cultures from a Gerstmann-Straussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology.

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-ass

SUBMITTER: Matamoros-Angles A 

PROVIDER: S-EPMC5842509 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature