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2 results on '"K298E MAPT mutation"'

1. The novel MAPT mutation K298E: mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons.

Author

Iovino, Mariangela, Pfisterer, Ulrich, Holton, Janice, Lashley, Tammaryn, Swingler, Robert, Calo, Laura, Treacy, Rebecca, Revesz, Tamas, Parmar, Malin, Goedert, Michel, Muqit, Miratul, and Spillantini, Maria

Subjects
*GENETIC mutation, *TOXICITY testing, *NEURONS, *MESSENGER RNA, *EXTRAPYRAMIDAL disorders, *BRAIN diseases, *NEURODEGENERATION
Abstract

Frontotemporal lobar degeneration (FTLD) consists of a group of neurodegenerative diseases characterized by behavioural and executive impairment, language disorders and motor dysfunction. About 20-30 % of cases are inherited in a dominant manner. Mutations in the microtubule-associated protein tau gene ( MAPT) cause frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17T). Here we report a novel MAPT mutation (K298E) in exon 10 in a patient with FTDP-17T. Neuropathological studies of post-mortem brain showed widespread neuronal loss and gliosis and abundant deposition of hyperphosphorylated tau in neurons and glia. Molecular studies demonstrated that the K298E mutation affects both protein function and alternative mRNA splicing. Fibroblasts from a skin biopsy of the proband taken at post-mortem were directly induced into neurons (iNs) and expressed both 3-repeat and 4-repeat tau isoforms. As well as contributing new knowledge on MAPT mutations in FTDP-17T, this is the first example of the successful generation of iNs from skin cells retrieved post-mortem. [ABSTRACT FROM AUTHOR]

Published
2014
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2. The novel MAPT mutation K298E: mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons

Author

Mariangela, Iovino, Ulrich, Pfisterer, Janice L, Holton, Tammaryn, Lashley, Robert J, Swingler, Laura, Calo, Rebecca, Treacy, Tamas, Revesz, Malin, Parmar, Michel, Goedert, Miratul M K, Muqit, and Maria Grazia, Spillantini

Subjects
Neurons, Biopsy, Brain, tau Proteins, Case Report, Exons, Fibroblasts, Tauopathies, Mutation, Humans, Female, Autopsy, Frontotemporal Lobar Degeneration, K298E MAPT mutation, Human induced-neurons, Aged, Chromosomes, Human, Pair 17
Abstract

Frontotemporal lobar degeneration (FTLD) consists of a group of neurodegenerative diseases characterized by behavioural and executive impairment, language disorders and motor dysfunction. About 20–30 % of cases are inherited in a dominant manner. Mutations in the microtubule-associated protein tau gene (MAPT) cause frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17T). Here we report a novel MAPT mutation (K298E) in exon 10 in a patient with FTDP-17T. Neuropathological studies of post-mortem brain showed widespread neuronal loss and gliosis and abundant deposition of hyperphosphorylated tau in neurons and glia. Molecular studies demonstrated that the K298E mutation affects both protein function and alternative mRNA splicing. Fibroblasts from a skin biopsy of the proband taken at post-mortem were directly induced into neurons (iNs) and expressed both 3-repeat and 4-repeat tau isoforms. As well as contributing new knowledge on MAPT mutations in FTDP-17T, this is the first example of the successful generation of iNs from skin cells retrieved post-mortem.

Published
2013

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