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.
Authors
- Ruchi Manglunia
- Carlo Scialò (ORCID: https://orcid.org/0000-0003-2393-4546)
- Elena De Cecco (ORCID: https://orcid.org/0000-0002-0148-2596)
- Adriano Aguzzi (ORCID: https://orcid.org/0000-0002-0344-6708)
- Bernd Roschitzki (ORCID: https://orcid.org/0000-0001-5756-9773)
- Somanath Jagannath
- Nandini Ramesh (ORCID: https://orcid.org/0000-0002-9538-2042)
- Clotilde Lagier‐Tourenne (ORCID: https://orcid.org/0000-0002-3058-8322)
- Su Min Lim (ORCID: https://orcid.org/0000-0002-5769-4854)
- 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
Institutions
- 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)
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
- Field-Weighted Citation Impact
- 0.00