A somatic mutation in erythro-myeloid progenitors causes neurodegenerative disease

Elvira Mass, Christian E. Jacome-Galarza, Thomas Blank, Tomi Lazarov, Benjamin H. Durham, Neval Ozkaya, Alessandro Pastore, Marius Schwabenland, Young Rock Chung, Marc K. Rosenblum, Marco Prinz, Omar Abdel-Wahab and Frederic Geissmann ()
Additional contact information
Elvira Mass: Immunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center
Christian E. Jacome-Galarza: Immunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center
Thomas Blank: Institute of Neuropathology, Faculty of Medicine, BIOSS Centre for Biological Signalling Studies, University of Freiburg
Tomi Lazarov: Immunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center
Benjamin H. Durham: Human Oncology and Pathogenesis Program, Leukemia Service, Memorial Sloan Kettering Cancer Center
Neval Ozkaya: Memorial Sloan Kettering Cancer Center
Alessandro Pastore: Human Oncology and Pathogenesis Program, Leukemia Service, Memorial Sloan Kettering Cancer Center
Marius Schwabenland: Institute of Neuropathology, Faculty of Medicine, BIOSS Centre for Biological Signalling Studies, University of Freiburg
Young Rock Chung: Human Oncology and Pathogenesis Program, Leukemia Service, Memorial Sloan Kettering Cancer Center
Marc K. Rosenblum: Memorial Sloan Kettering Cancer Center
Marco Prinz: Institute of Neuropathology, Faculty of Medicine, BIOSS Centre for Biological Signalling Studies, University of Freiburg
Omar Abdel-Wahab: Human Oncology and Pathogenesis Program, Leukemia Service, Memorial Sloan Kettering Cancer Center
Frederic Geissmann: Immunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center

Nature, 2017, vol. 549, issue 7672, 389-393

Abstract: Braf V600E expression in resident macrophage progenitors leads to clonal expansion of ERK-activated microglia, which causes synaptic and neuronal loss in the brain and results in lethal neurodegenerative disease in adult mice.

Date: 2017
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DOI: 10.1038/nature23672

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