A somatic mutation in erythro-myeloid progenitors causes neurodegenerative disease

Nature. 2017 Sep 21;549(7672):389-393. doi: 10.1038/nature23672. Epub 2017 Aug 30.

Abstract

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 activation. Whether microglial activation, which is generally viewed as a secondary process, is harmful or protective in neurodegeneration remains unclear. Late-onset neurodegenerative disease observed in patients with histiocytoses, which are clonal myeloid diseases associated with somatic mutations in the RAS-MEK-ERK pathway such as BRAF(V600E), suggests a possible role of somatic mutations in myeloid cells in neurodegeneration. Yet the expression of BRAF(V600E) in the haematopoietic stem cell lineage causes leukaemic and tumoural diseases but not neurodegenerative disease. Microglia belong to a lineage of adult tissue-resident myeloid cells that develop during organogenesis from yolk-sac erythro-myeloid progenitors (EMPs) distinct from haematopoietic stem cells. We therefore hypothesized that a somatic BRAF(V600E) mutation in the EMP lineage may cause neurodegeneration. Here we show that mosaic expression of BRAF(V600E) in mouse EMPs results in clonal expansion of tissue-resident macrophages and a severe late-onset neurodegenerative disorder. This is associated with accumulation of ERK-activated amoeboid microglia in mice, and is also observed in human patients with histiocytoses. In the mouse model, neurobehavioural signs, astrogliosis, deposition of amyloid precursor protein, synaptic loss and neuronal death were driven by ERK-activated microglia and were preventable by BRAF inhibition. These results identify the fetal precursors of tissue-resident macrophages as a potential cell-of-origin for histiocytoses and demonstrate that a somatic mutation in the EMP lineage in mice can drive late-onset neurodegeneration. Moreover, these data identify activation of the MAP kinase pathway in microglia as a cause of neurodegeneration and this offers opportunities for therapeutic intervention aimed at the prevention of neuronal death in neurodegenerative diseases.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Clone Cells / enzymology
  • Clone Cells / metabolism
  • Clone Cells / pathology
  • Disease Models, Animal
  • Erythroid Precursor Cells / enzymology
  • Erythroid Precursor Cells / metabolism
  • Erythroid Precursor Cells / pathology*
  • Extracellular Signal-Regulated MAP Kinases / metabolism
  • Female
  • Histiocytosis / enzymology
  • Histiocytosis / genetics
  • Histiocytosis / metabolism
  • Histiocytosis / pathology
  • Humans
  • MAP Kinase Signaling System*
  • Macrophages / enzymology
  • Macrophages / metabolism
  • Macrophages / pathology
  • Male
  • Mice
  • Microglia / enzymology
  • Microglia / metabolism
  • Microglia / pathology
  • Mosaicism
  • Mutation*
  • Myeloid Progenitor Cells / enzymology
  • Myeloid Progenitor Cells / metabolism
  • Myeloid Progenitor Cells / pathology*
  • Neurodegenerative Diseases / enzymology
  • Neurodegenerative Diseases / genetics*
  • Neurodegenerative Diseases / metabolism
  • Neurodegenerative Diseases / pathology*
  • Proto-Oncogene Proteins B-raf / antagonists & inhibitors
  • Proto-Oncogene Proteins B-raf / genetics*
  • Proto-Oncogene Proteins B-raf / metabolism

Substances

  • Proto-Oncogene Proteins B-raf
  • Extracellular Signal-Regulated MAP Kinases