Case analysis of early-onset Alzheimer's disease associated with TBK1 p.Tyr235Phe gene mutation

TANK1-binding kinase 1 (TBK1) is mainly involved in the regulation of various cellular pathways through the autophagic lysosomal system, and the loss of function or hypofunction caused by TBK1 gene mutation mainly leads to frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS)...

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Autores principales: Li, Pan, Y, Yuanyuan, Cai, Hao, Zhang, Huihong, Zhou, Yuying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9671219/
https://www.ncbi.nlm.nih.gov/pubmed/36408501
http://dx.doi.org/10.3389/fneur.2022.993399
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author Li, Pan
Y, Yuanyuan
Cai, Hao
Zhang, Huihong
Zhou, Yuying
author_facet Li, Pan
Y, Yuanyuan
Cai, Hao
Zhang, Huihong
Zhou, Yuying
author_sort Li, Pan
collection PubMed
description TANK1-binding kinase 1 (TBK1) is mainly involved in the regulation of various cellular pathways through the autophagic lysosomal system, and the loss of function or hypofunction caused by TBK1 gene mutation mainly leads to frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and ALS-FTLD. Alzheimer's disease (AD) due to TBK1 gene mutation is extremely rare, and only one case has been reported in China so far. In this report, we described a patient with early-onset AD (EOAD) in whom a new probable pathogenic variant c.704A>T (p.Tyr235Phe) in the TBK1 gene was identified by a whole-genome sequencing analysis. It is suggested that FTLD gene mutation may exist in patients with clinical manifestations of AD.
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spelling pubmed-96712192022-11-18 Case analysis of early-onset Alzheimer's disease associated with TBK1 p.Tyr235Phe gene mutation Li, Pan Y, Yuanyuan Cai, Hao Zhang, Huihong Zhou, Yuying Front Neurol Neurology TANK1-binding kinase 1 (TBK1) is mainly involved in the regulation of various cellular pathways through the autophagic lysosomal system, and the loss of function or hypofunction caused by TBK1 gene mutation mainly leads to frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and ALS-FTLD. Alzheimer's disease (AD) due to TBK1 gene mutation is extremely rare, and only one case has been reported in China so far. In this report, we described a patient with early-onset AD (EOAD) in whom a new probable pathogenic variant c.704A>T (p.Tyr235Phe) in the TBK1 gene was identified by a whole-genome sequencing analysis. It is suggested that FTLD gene mutation may exist in patients with clinical manifestations of AD. Frontiers Media S.A. 2022-11-03 /pmc/articles/PMC9671219/ /pubmed/36408501 http://dx.doi.org/10.3389/fneur.2022.993399 Text en Copyright © 2022 Li, Y, Cai, Zhang and Zhou. https://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 Neurology
Li, Pan
Y, Yuanyuan
Cai, Hao
Zhang, Huihong
Zhou, Yuying
Case analysis of early-onset Alzheimer's disease associated with TBK1 p.Tyr235Phe gene mutation
title Case analysis of early-onset Alzheimer's disease associated with TBK1 p.Tyr235Phe gene mutation
title_full Case analysis of early-onset Alzheimer's disease associated with TBK1 p.Tyr235Phe gene mutation
title_fullStr Case analysis of early-onset Alzheimer's disease associated with TBK1 p.Tyr235Phe gene mutation
title_full_unstemmed Case analysis of early-onset Alzheimer's disease associated with TBK1 p.Tyr235Phe gene mutation
title_short Case analysis of early-onset Alzheimer's disease associated with TBK1 p.Tyr235Phe gene mutation
title_sort case analysis of early-onset alzheimer's disease associated with tbk1 p.tyr235phe gene mutation
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9671219/
https://www.ncbi.nlm.nih.gov/pubmed/36408501
http://dx.doi.org/10.3389/fneur.2022.993399
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