Article: A microglia clonal inflammatory disorder in Alzheimer's Disease.
bioRxiv : the preprint server for biology
2024
Abstract: 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 ... ...
Abstract | 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 |
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Language | English |
Publishing date | 2024-01-25 |
Publishing country | United States |
Document type | Preprint |
DOI | 10.1101/2024.01.25.577216 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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