Lysosomal escape and TMEM106B fibrillar core determine TDP-43 seeding outcomes

Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) shows striking clinical and neuropathological heterogeneity, yet a systematic analysis of subtype-specific features and inter-patient variability was missing. We treated human neurons and neuron-like cells with 30 postmortem brain samples and quantified neoaggregate formation, loss of function and changes in the TDP-43 interactome to define determinants of seeding outcomes. Potent FTLD-TDP-A seeds drove a progressive collapse of physiological TDP-43 interactions accompanied by functional loss. Beyond the burden of pathological TDP-43, we identified the fibrillar core of the lysosomal protein TMEM106B as a critical pro-seeding factor. Transient lysosomal injury markedly enhanced neoaggregation and loss of function, likely by promoting fibril interactions with native TDP-43. Our work establishes a mechanistic link between TMEM106B and TDP-43 aggregation, identifies lysosomal escape as a key driver of pathology and introduces the strongest model yet for seeded TDP-43 aggregation and loss of function, to enable discovery of disease modifiers.

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Publication Details

Journal
bioRxiv (Cold Spring Harbor Laboratory)
Published
2025-12-22
DOI
https://doi.org/10.64898/2025.12.19.695531
Primary Topic
Amyotrophic Lateral Sclerosis Research
Type
article
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article

Lysosomal escape and TMEM106B fibrillar core determine TDP-43 seeding outcomes

Ruchi Manglunia, Carlo Scialò, Elena De Cecco, Adriano Aguzzi et al.
bioRxiv (Cold Spring Harbor Laboratory)
Amyotrophic Lateral Sclerosis Research
article

Lysosomal escape and TMEM106B fibrillar core determine TDP-43 seeding outcomes

Ruchi Manglunia, Carlo Scialò, Elena De Cecco, Adriano Aguzzi, Bernd Roschitzki, Somanath Jagannath, Nandini Ramesh, Clotilde Lagier‐Tourenne, Su Min Lim, Beatrice Gatta, M Peter, Weijia Zhong, Leonard Petrucelli, Flavio Romain Lurati, Magdalini Polymenidou, Michael Ward, Pietro Fratta, Oscar G Wilkins, Manon Anic Haefliger, Noemi Rebecca Leu
article en

Abstract

Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) shows striking clinical and neuropathological heterogeneity, yet a systematic analysis of subtype-specific features and inter-patient variability was missing. We treated human neurons and neuron-like cells with 30 postmortem brain samples and quantified neoaggregate formation, loss of function and changes in the TDP-43 interactome to define determinants of seeding outcomes. Potent FTLD-TDP-A seeds drove a progressive collapse of physiological TDP-43 interactions accompanied by functional loss. Beyond the burden of pathological TDP-43, we identified the fibrillar core of the lysosomal protein TMEM106B as a critical pro-seeding factor. Transient lysosomal injury markedly enhanced neoaggregation and loss of function, likely by promoting fibril interactions with native TDP-43. Our work establishes a mechanistic link between TMEM106B and TDP-43 aggregation, identifies lysosomal escape as a key driver of pathology and introduces the strongest model yet for seeded TDP-43 aggregation and loss of function, to enable discovery of disease modifiers.

bioRxiv (Cold Spring Harbor Laboratory)
Broad Institute (US), National Institutes of Health (US), Harvard University (US), University of Zurich (CH), The Francis Crick Institute (GB), ETH Zurich (CH), Massachusetts General Hospital (US), Mayo Clinic in Florida (US), National Hospital for Neurology and Neurosurgery (GB), University College London (GB)
Openalex Percentile: Top 32%
Amyotrophic Lateral Sclerosis Research
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