Neurodegeneration risk variants promote lysosomal TMEM106B fibril accumulation
Abstract
Variants in TMEM106B and GRN , which encode lysosomal proteins, interact through unknown mechanisms to increase the risk of age-related cognitive decline and neurodegeneration. Here, we show that these variants converge on a single molecular intermediate: the cleaved intra-lysosomal fibril core of TMEM106B, a precursor to amyloid fibrils that accumulate in the aging brain. A protein-coding TMEM106B risk variant (p.T185) drives fibril core accumulation by impairing its degradation and GRN risk variants amplify this effect. Mice over-expressing the fibril core develop hallmarks of neurodegeneration, and cryo-electron tomography reveals intra-lysosomal fibrils in cultured neurons, mice, and diseased human brain. In GRN -mutation carriers, in whom fibril burden is greatest, fibrils extrude through ruptured lysosomal membranes. These findings identify intra-lysosomal TMEM106B fibrillization as a convergent neurodegeneration mechanism and potential therapeutic target.
Fields of Study & Subjects
Alzheimer's disease research and treatments
Lysosomal Storage Disorders Research
Amyotrophic Lateral Sclerosis Research
Publication details
- Journal / source
- bioRxiv (Cold Spring Harbor Laboratory)
- Publisher
- openRxiv
- Publication date
- 28 March 2026
- Language
- EN
- Document type
- Preprint