Advancements in TDP-43 research: Towards biomarkers and therapeutic targets for amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) remains a devastating neurodegenerative disease characterized by progressive motor neuron degeneration, leading to paralysis and premature death. Despite advances in understanding its pathology, ALS diagnosis and treatment remain primarily symptomatic, lacking dis...

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Main Authors: Yuhan Wu, Jie Wang, Qianhua Zhao
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:Aging and Health Research
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Online Access:http://www.sciencedirect.com/science/article/pii/S2667032124000362
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author Yuhan Wu
Jie Wang
Qianhua Zhao
author_facet Yuhan Wu
Jie Wang
Qianhua Zhao
author_sort Yuhan Wu
collection DOAJ
description Amyotrophic lateral sclerosis (ALS) remains a devastating neurodegenerative disease characterized by progressive motor neuron degeneration, leading to paralysis and premature death. Despite advances in understanding its pathology, ALS diagnosis and treatment remain primarily symptomatic, lacking disease-specific biomarkers. TAR DNA-binding protein 43 (TDP-43) has emerged as a central player in ALS pathogenesis, undergoing pathological alterations including hyperphosphorylation, truncation, and cytoplasmic aggregation. This article reviews the physiological and pathological roles of TDP-43, its potential as a biomarker, and its candidacy as a therapeutic target. Challenges in detecting pathological forms of TDP-43 in biofluids hinder diagnostic advancements, yet recent research provides insights into its potential diagnostic and prognostic value. Moreover, ongoing efforts aim to develop targeted therapies, including genetic and proteostasis-based approaches, to mitigate TDP-43 pathology and its downstream effects. The article also discusses the need for novel animal models and antibodies to distinguish between pathological and physiological forms of TDP-43 for reliable biomarker development. Looking ahead, the article advocates for both linear and horizontal developments in TDP-43 research to advance ALS diagnosis, prognosis, and treatment paradigms.
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spelling doaj-art-f750ba53215d41a09dd0f6910f88f76f2024-12-02T05:07:12ZengElsevierAging and Health Research2667-03212025-03-0151100215Advancements in TDP-43 research: Towards biomarkers and therapeutic targets for amyotrophic lateral sclerosisYuhan Wu0Jie Wang1Qianhua Zhao2Institute and Department of Neurology, Huashan Hospital, Fudan University, Shanghai, ChinaInstitute and Department of Neurology, Huashan Hospital, Fudan University, Shanghai, ChinaInstitute and Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China; National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai, China; National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China; MOE Frontiers Center for Brain Science, Fudan University, Shanghai, China; Corresponding author at: Institute and Department of Neurology, Huashan Hospital, Fudan University, No. 12 Wulumuqi Rd(M), Shanghai, China.Amyotrophic lateral sclerosis (ALS) remains a devastating neurodegenerative disease characterized by progressive motor neuron degeneration, leading to paralysis and premature death. Despite advances in understanding its pathology, ALS diagnosis and treatment remain primarily symptomatic, lacking disease-specific biomarkers. TAR DNA-binding protein 43 (TDP-43) has emerged as a central player in ALS pathogenesis, undergoing pathological alterations including hyperphosphorylation, truncation, and cytoplasmic aggregation. This article reviews the physiological and pathological roles of TDP-43, its potential as a biomarker, and its candidacy as a therapeutic target. Challenges in detecting pathological forms of TDP-43 in biofluids hinder diagnostic advancements, yet recent research provides insights into its potential diagnostic and prognostic value. Moreover, ongoing efforts aim to develop targeted therapies, including genetic and proteostasis-based approaches, to mitigate TDP-43 pathology and its downstream effects. The article also discusses the need for novel animal models and antibodies to distinguish between pathological and physiological forms of TDP-43 for reliable biomarker development. Looking ahead, the article advocates for both linear and horizontal developments in TDP-43 research to advance ALS diagnosis, prognosis, and treatment paradigms.http://www.sciencedirect.com/science/article/pii/S2667032124000362Amyotrophic lateral sclerosisTDP-43BiomarkerTargeted therapies
spellingShingle Yuhan Wu
Jie Wang
Qianhua Zhao
Advancements in TDP-43 research: Towards biomarkers and therapeutic targets for amyotrophic lateral sclerosis
Aging and Health Research
Amyotrophic lateral sclerosis
TDP-43
Biomarker
Targeted therapies
title Advancements in TDP-43 research: Towards biomarkers and therapeutic targets for amyotrophic lateral sclerosis
title_full Advancements in TDP-43 research: Towards biomarkers and therapeutic targets for amyotrophic lateral sclerosis
title_fullStr Advancements in TDP-43 research: Towards biomarkers and therapeutic targets for amyotrophic lateral sclerosis
title_full_unstemmed Advancements in TDP-43 research: Towards biomarkers and therapeutic targets for amyotrophic lateral sclerosis
title_short Advancements in TDP-43 research: Towards biomarkers and therapeutic targets for amyotrophic lateral sclerosis
title_sort advancements in tdp 43 research towards biomarkers and therapeutic targets for amyotrophic lateral sclerosis
topic Amyotrophic lateral sclerosis
TDP-43
Biomarker
Targeted therapies
url http://www.sciencedirect.com/science/article/pii/S2667032124000362
work_keys_str_mv AT yuhanwu advancementsintdp43researchtowardsbiomarkersandtherapeutictargetsforamyotrophiclateralsclerosis
AT jiewang advancementsintdp43researchtowardsbiomarkersandtherapeutictargetsforamyotrophiclateralsclerosis
AT qianhuazhao advancementsintdp43researchtowardsbiomarkersandtherapeutictargetsforamyotrophiclateralsclerosis