Cargando…

Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment

Tau is a microtubule-associated protein that plays an important role in Alzheimer’s disease and related tauopathies. Approximately one-half of all cases of Frontotemporal dementia with parkinsonism-17 (FTDP-17) are caused by mutations in the MAPT gene. The N279K mutation is one of the three mutation...

Descripción completa

Detalles Bibliográficos
Autores principales: Ritter, Maxi L., Avila, Jesús, García-Escudero, Vega, Hernández, Félix, Pérez, Mar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6052045/
https://www.ncbi.nlm.nih.gov/pubmed/30050413
http://dx.doi.org/10.3389/fncel.2018.00202
_version_ 1783340594572034048
author Ritter, Maxi L.
Avila, Jesús
García-Escudero, Vega
Hernández, Félix
Pérez, Mar
author_facet Ritter, Maxi L.
Avila, Jesús
García-Escudero, Vega
Hernández, Félix
Pérez, Mar
author_sort Ritter, Maxi L.
collection PubMed
description Tau is a microtubule-associated protein that plays an important role in Alzheimer’s disease and related tauopathies. Approximately one-half of all cases of Frontotemporal dementia with parkinsonism-17 (FTDP-17) are caused by mutations in the MAPT gene. The N279K mutation is one of the three mutations more prevalent in FTDP-17 cases. Several studies have demonstrated that N279K Tau mutation alters alternative splicing inducing the presence of exon 10. Tau is mainly found in the cytosol of neuronal cells although it has also been localized within the nucleus. Here we demonstrate by biochemical and immunohistochemistry studies in COS-7 cells, that the proportion of mutant N279K Tau increases compared with wild-type at the cell nucleus although cell viability is not affected. These data will provide us with a better outline of the nuclear role of tau protein offering new clues related with this tauopathie.
format Online
Article
Text
id pubmed-6052045
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-60520452018-07-26 Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment Ritter, Maxi L. Avila, Jesús García-Escudero, Vega Hernández, Félix Pérez, Mar Front Cell Neurosci Neuroscience Tau is a microtubule-associated protein that plays an important role in Alzheimer’s disease and related tauopathies. Approximately one-half of all cases of Frontotemporal dementia with parkinsonism-17 (FTDP-17) are caused by mutations in the MAPT gene. The N279K mutation is one of the three mutations more prevalent in FTDP-17 cases. Several studies have demonstrated that N279K Tau mutation alters alternative splicing inducing the presence of exon 10. Tau is mainly found in the cytosol of neuronal cells although it has also been localized within the nucleus. Here we demonstrate by biochemical and immunohistochemistry studies in COS-7 cells, that the proportion of mutant N279K Tau increases compared with wild-type at the cell nucleus although cell viability is not affected. These data will provide us with a better outline of the nuclear role of tau protein offering new clues related with this tauopathie. Frontiers Media S.A. 2018-07-12 /pmc/articles/PMC6052045/ /pubmed/30050413 http://dx.doi.org/10.3389/fncel.2018.00202 Text en Copyright © 2018 Ritter, Avila, García-Escudero, Hernández and Pérez. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neuroscience
Ritter, Maxi L.
Avila, Jesús
García-Escudero, Vega
Hernández, Félix
Pérez, Mar
Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment
title Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment
title_full Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment
title_fullStr Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment
title_full_unstemmed Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment
title_short Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment
title_sort frontotemporal dementia-associated n279k tau mutation localizes at the nuclear compartment
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6052045/
https://www.ncbi.nlm.nih.gov/pubmed/30050413
http://dx.doi.org/10.3389/fncel.2018.00202
work_keys_str_mv AT rittermaxil frontotemporaldementiaassociatedn279ktaumutationlocalizesatthenuclearcompartment
AT avilajesus frontotemporaldementiaassociatedn279ktaumutationlocalizesatthenuclearcompartment
AT garciaescuderovega frontotemporaldementiaassociatedn279ktaumutationlocalizesatthenuclearcompartment
AT hernandezfelix frontotemporaldementiaassociatedn279ktaumutationlocalizesatthenuclearcompartment
AT perezmar frontotemporaldementiaassociatedn279ktaumutationlocalizesatthenuclearcompartment