TDP-43 mutants with different aggregation properties exhibit distinct toxicity, axonal transport, and secretion for disease progression in a mouse ALS/FTLD model

TDP-43 accumulates and forms inclusions in neurons in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) and is assumed to cause neurodegenerative processes. The morphologies and cellular and areal distributions of accumulated TDP-43 inclusions are pathologically divers...

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Main Authors: Hideki Mori, Tokiharu Sato, Shintaro Tsuboguchi, Masahiko Takahashi, Yuka Nakamura, Kana Hoshina, Taisuke Kato, Masahiro Fujii, Osamu Onodera, Masaki Ueno
Format: Article
Language:English
Published: Elsevier 2025-08-01
Series:Neurobiology of Disease
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Online Access:http://www.sciencedirect.com/science/article/pii/S0969996125002049
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author Hideki Mori
Tokiharu Sato
Shintaro Tsuboguchi
Masahiko Takahashi
Yuka Nakamura
Kana Hoshina
Taisuke Kato
Masahiro Fujii
Osamu Onodera
Masaki Ueno
author_facet Hideki Mori
Tokiharu Sato
Shintaro Tsuboguchi
Masahiko Takahashi
Yuka Nakamura
Kana Hoshina
Taisuke Kato
Masahiro Fujii
Osamu Onodera
Masaki Ueno
author_sort Hideki Mori
collection DOAJ
description TDP-43 accumulates and forms inclusions in neurons in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) and is assumed to cause neurodegenerative processes. The morphologies and cellular and areal distributions of accumulated TDP-43 inclusions are pathologically diverse among ALS/FTLD patients; however, whether and how different types of TDP-43 affect the process and severity of disease progression are not fully understood. Here, we compared the pathological events evoked by TDP-43 mutations, which have different aggregation properties, in cultured neurons and the cerebral cortex in mice. We selected TDP-43C173/175S and TDP-43G298S as aggregation-prone and nonprone mutants, respectively. Cytoplasmically expressed TDP-43C173/175S induced insoluble inclusions more robustly than TDP-43G298S did. In contrast, TDP-43G298S induced cell death more severely than TDP-43C173/175S. TDP-43G298S was further found to be efficiently transported in axons and led to axon degeneration, while this effect was not obvious in TDP-43C173/175S. Instead, TDP-43C173/175S was frequently trapped in the axon initial segments. Finally, TDP-43G298S was secreted in exosomes and transferred to oligodendrocyte-lineage cells in vitro more efficiently than TDP-43C173/175S to induce cell death. The transfer further evoked cytokine responses in microglial cells. These data revealed that different aggregation properties of TDP-43 cause distinct pathological events. These findings may explain the differences in the neurodegenerative progression and distribution observed among patients with ALS and FTLD.
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spelling doaj-art-eab14ebd0add4736b8ce426b4c65b8b62025-08-20T03:46:46ZengElsevierNeurobiology of Disease1095-953X2025-08-0121210698810.1016/j.nbd.2025.106988TDP-43 mutants with different aggregation properties exhibit distinct toxicity, axonal transport, and secretion for disease progression in a mouse ALS/FTLD modelHideki Mori0Tokiharu Sato1Shintaro Tsuboguchi2Masahiko Takahashi3Yuka Nakamura4Kana Hoshina5Taisuke Kato6Masahiro Fujii7Osamu Onodera8Masaki Ueno9Department of Neurology, Brain Research Institute, Niigata University, Niigata, Niigata 951-8585, JapanDepartment of System Pathology for Neurological Disorders, Brain Research Institute, Niigata University, Niigata, Niigata 951-8585, JapanDepartment of Neurology, Brain Research Institute, Niigata University, Niigata, Niigata 951-8585, JapanDivision of Virology, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Niigata 951-8585, JapanDepartment of System Pathology for Neurological Disorders, Brain Research Institute, Niigata University, Niigata, Niigata 951-8585, JapanDepartment of Molecular Neuroscience, Brain Research Institute, Niigata University, Niigata, Niigata 951-8585, JapanDepartment of Molecular Neuroscience, Brain Research Institute, Niigata University, Niigata, Niigata 951-8585, JapanDivision of Virology, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Niigata 951-8585, JapanDepartment of Neurology, Brain Research Institute, Niigata University, Niigata, Niigata 951-8585, Japan; Department of Molecular Neuroscience, Brain Research Institute, Niigata University, Niigata, Niigata 951-8585, Japan; Corresponding author at: Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachidori, Chuo-ku, Niigata, Niigata 951-8585, Japan.Department of System Pathology for Neurological Disorders, Brain Research Institute, Niigata University, Niigata, Niigata 951-8585, Japan; Corresponding author at: Department of System Pathology for Neurological Disorders, Brain Research Institute, Niigata University, 1-757 Asahimachidori, Chuo-ku, Niigata, Niigata 951-8585, Japan.TDP-43 accumulates and forms inclusions in neurons in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) and is assumed to cause neurodegenerative processes. The morphologies and cellular and areal distributions of accumulated TDP-43 inclusions are pathologically diverse among ALS/FTLD patients; however, whether and how different types of TDP-43 affect the process and severity of disease progression are not fully understood. Here, we compared the pathological events evoked by TDP-43 mutations, which have different aggregation properties, in cultured neurons and the cerebral cortex in mice. We selected TDP-43C173/175S and TDP-43G298S as aggregation-prone and nonprone mutants, respectively. Cytoplasmically expressed TDP-43C173/175S induced insoluble inclusions more robustly than TDP-43G298S did. In contrast, TDP-43G298S induced cell death more severely than TDP-43C173/175S. TDP-43G298S was further found to be efficiently transported in axons and led to axon degeneration, while this effect was not obvious in TDP-43C173/175S. Instead, TDP-43C173/175S was frequently trapped in the axon initial segments. Finally, TDP-43G298S was secreted in exosomes and transferred to oligodendrocyte-lineage cells in vitro more efficiently than TDP-43C173/175S to induce cell death. The transfer further evoked cytokine responses in microglial cells. These data revealed that different aggregation properties of TDP-43 cause distinct pathological events. These findings may explain the differences in the neurodegenerative progression and distribution observed among patients with ALS and FTLD.http://www.sciencedirect.com/science/article/pii/S0969996125002049Axon initial segment (AIS)CallosalCorticospinalLayer VSensorimotor cortexSpreading
spellingShingle Hideki Mori
Tokiharu Sato
Shintaro Tsuboguchi
Masahiko Takahashi
Yuka Nakamura
Kana Hoshina
Taisuke Kato
Masahiro Fujii
Osamu Onodera
Masaki Ueno
TDP-43 mutants with different aggregation properties exhibit distinct toxicity, axonal transport, and secretion for disease progression in a mouse ALS/FTLD model
Neurobiology of Disease
Axon initial segment (AIS)
Callosal
Corticospinal
Layer V
Sensorimotor cortex
Spreading
title TDP-43 mutants with different aggregation properties exhibit distinct toxicity, axonal transport, and secretion for disease progression in a mouse ALS/FTLD model
title_full TDP-43 mutants with different aggregation properties exhibit distinct toxicity, axonal transport, and secretion for disease progression in a mouse ALS/FTLD model
title_fullStr TDP-43 mutants with different aggregation properties exhibit distinct toxicity, axonal transport, and secretion for disease progression in a mouse ALS/FTLD model
title_full_unstemmed TDP-43 mutants with different aggregation properties exhibit distinct toxicity, axonal transport, and secretion for disease progression in a mouse ALS/FTLD model
title_short TDP-43 mutants with different aggregation properties exhibit distinct toxicity, axonal transport, and secretion for disease progression in a mouse ALS/FTLD model
title_sort tdp 43 mutants with different aggregation properties exhibit distinct toxicity axonal transport and secretion for disease progression in a mouse als ftld model
topic Axon initial segment (AIS)
Callosal
Corticospinal
Layer V
Sensorimotor cortex
Spreading
url http://www.sciencedirect.com/science/article/pii/S0969996125002049
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