← BioTransfer GEO Dataset Finder
GEO series

A microglia clonal inflammatory disorder in Alzheimer’s Disease II

GSE286627 Homo sapiens Expression profiling by high throughput sequencing 5 samples Submitted 2025/03/19 Platform GPL24676
Summary
Somatic genetic heterogeneity resulting from post-zygotic DNA mutations is widespread in human tissues and can cause diseases, however few studies have investigated its role in neurodegenerative processes such as Alzheimer’s Disease (AD). Here we report the selective enrichment of microglia clones carrying pathogenic variants, that are not present in neuronal, glia/stromal cells, or blood, from patients with AD in comparison to age-matched controls. Notably, microglia-specific AD-associated variants preferentially target the MAPK pathway, including recurrent CBL ring-domain mutations. These variants activate ERK and drive a microglia transcriptional program characterized by a strong neuro-inflammatory response, both in vitro and in patients. Although the natural history of AD-associated microglial clones is difficult to establish in human, microglial expression of a MAPK pathway activating variant was previously shown to cause neurodegeneration in mice, suggesting that AD-associated neuroinflammatory microglial clones may contribute to the neurodegenerative process in patients.
Published in
A microglia clonal inflammatory disorder in Alzheimer's disease
Vicario R, Fragkogianni S, Weber L et al. · eLife 2025 · PMID 40085681 · doi:10.7554/eLife.96519
This dataset
Download

Direct links to NCBI, no account and no request form: the whole study as GSE286627_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 5 samples. Raw sequencing reads are also available from ENA.

Also filed as BioProject PRJNA1209966 and SRA study SRP557042. Searching any of these in the dataset finder brings you back here.

Samples in this study

The sample list for this study is not cached yet. Press Sort into groups and it will be fetched from NCBI.

+ 5 more — browse all 5 samples with per-sample file links →

Similar datasets

Search all human RNA-seq datasets in GEO →

Share this dataset

Metadata from NCBI GEO, cached and refreshed periodically — the NCBI page above is authoritative. Downloads link straight to NCBI/ENA; nothing is proxied through BioTransfer.