5 years ago

A somatic mutation in erythro-myeloid progenitors causes neurodegenerative disease

A somatic mutation in erythro-myeloid progenitors causes neurodegenerative disease
Marc K. Rosenblum, Tomi Lazarov, Frederic Geissmann, Alessandro Pastore, Christian E. Jacome-Galarza, Omar Abdel-Wahab, Marco Prinz, Young Rock Chung, Benjamin H. Durham, Elvira Mass, Marius Schwabenland, Thomas Blank, Neval Ozkaya

The pathophysiology of neurodegenerative diseases is poorly understood and there are few therapeutic options. Neurodegenerative diseases are characterized by progressive neuronal dysfunction and loss, and chronic glial activation1. Whether microglial activation, which is generally viewed as a secondary process, is harmful or protective in neurodegeneration remains unclear1, 2, 3, 4, 5, 6, 7, 8. Late-onset neurodegenerative disease observed in patients with histiocytoses9, 10, 11, 12, which are clonal myeloid diseases associated with somatic mutations in the RAS–MEK–ERK pathway such as BRAF(V600E)13, 14, 15, 16, 17-Abstract Truncated-

Publisher URL: http://dx.doi.org/10.1038/nature23672

DOI: 10.1038/nature23672

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