Biophysical characterization of TREM2 missense variants implicated in neurodegenerative disease.

ABSTRACT: Triggering receptor expressed on myeloid cells 2 (TREM2), an immune receptor expressed on the surface of microglia, has been identified through genome-wide association studies to be one of the risk factors in Alzheimer's disease (AD). Several studies have also identified missense variants of TREM2 to be associated with frontotemporal dementia and Nasu-Hakola disease (NHD). To date, 51 novel missense variants of TREM2 have been identified in the literature, with the disease risk profiles of most variants still unknown. Assessing and classifying the pathogenicity of these variants is essential to investigate the disease mechanisms and develop effective treatments. Herein, we classified 44 missense variants involved in TREM2 using structural bioinformatic data with AlphaFold2. Using the proto

SUBMITTER: Pillai J 

PROVIDER: S-EPMC12275484 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature