Neurodegeneration risk variants promote lysosomal TMEM106B fibril accumulation

Read full text
Authors: John Michael Replogle, Jordan D. Marks, Martin G Fernandez, Hebao Yuan, Dahyun Yu, Elizabeth Winters, Vidhya Maheswari Jawahar, Rishi Deshmukh, Renaldo Sutanto, Isabelle Kowal, Ashley M. Frankenfield, Rachel Shi
+39 more Yari Carlomagno, Karen Jansen-West, Tiffany W. Todd, Andrii Kopach, I. Sandra Ndayambaje, Yue Andy Qi, Ananth Shantaraman, Ignacio Pozo-Cabanell, Udit Sheth, Mei Yue, Duc Duong, Shawn M. Ferguson, David A Bennett, Markus Damme, Brad F Boeve, Gregory S Day, Benjamin P. Kellman, William C. Skarnes, Ronald C Petersen, K. Josephs, Neill Graff-Radford, Justin A. McDonough, Mercedes Prudencio, Sami J. Barmada, Yongjie Zhang, Ling Hao, Michael A. Deture, Bailey D. Rawlinson, Erica Engelberg Cook, Monica Castanedes Casey, Nathan M Perez, Dennis Dickson, Aliza P. Wingo, Yue Liu, Nicholas T. Seyfried, Thomas S. Wingo, Shyamal Mosalaganti, Leonard Petrucelli, Michael E Ward
Cited by: 2
References: 117

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