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TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD.

Accepted version
Peer-reviewed

Type

Article

Change log

Authors

White, Matthew A 
Kim, Eosu 
Duffy, Amanda 
Adalbert, Robert 
Phillips, Benjamin U 

Abstract

Amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) constitutes a devastating disease spectrum characterized by 43-kDa TAR DNA-binding protein (TDP-43) pathology. Understanding how TDP-43 contributes to neurodegeneration will help direct therapeutic efforts. Here we have created a TDP-43 knock-in mouse with a human-equivalent mutation in the endogenous mouse Tardbp gene. TDP-43Q331K mice demonstrate cognitive dysfunction and a paucity of parvalbumin interneurons. Critically, TDP-43 autoregulation is perturbed, leading to a gain of TDP-43 function and altered splicing of Mapt, another pivotal dementia-associated gene. Furthermore, a new approach to stratify transcriptomic data by phenotype in differentially affected mutant mice revealed 471 changes linked with improved behavior. These changes included downregulation of two known modifiers of neurodegeneration, Atxn2 and Arid4a, and upregulation of myelination and translation genes. With one base change in murine Tardbp, this study identifies TDP-43 misregulation as a pathogenic mechanism that may underpin ALS-FTD and exploits phenotypic heterogeneity to yield candidate suppressors of neurodegenerative disease.

Description

Keywords

Amyotrophic Lateral Sclerosis, Animals, Brain, Choice Behavior, Cognition Disorders, Conditioning, Operant, DNA-Binding Proteins, Dementia, Disease Models, Animal, Female, Gene Expression Regulation, Male, Memory Disorders, Mice, Mice, Inbred C57BL, Mice, Transgenic, Motor Activity, Mutation, Neuromuscular Junction, Psychomotor Performance, Reaction Time

Journal Title

Nat Neurosci

Conference Name

Journal ISSN

1097-6256
1546-1726

Volume Title

21

Publisher

Springer Science and Business Media LLC
Sponsorship
Alzheimer's Research UK (ARUK-RF2016A-1)
Medical Research Council (MR/L003813/1)