Researchers have made new discoveries into the underlying cause of a rare neurodegenerative condition linked to dementia.
Adult onset leukoencephalopathy with axonal spheroids and pigmented glia involves mutations in the colony stimulating factor-1 receptor gene. This leads to abnormal changes in the brain’s white matter, a loss of myelin surrounding nerves, and swelling of brain cell axons.
A team led by Dr Matthew Campbell at Trinity College Dublin, Ireland, investigated the causes of the condition using brain cell samples in the lab.
They found that, rather than being driven by microglia in the brain, as expected, the condition is actually caused by dysfunctional circulating white blood cells.
Details were published yesterday (22 December) in EMBO Molecular Medicine. The team believe this represents a significant advance in the understanding of this condition and related diseases including Alzheimer’s disease.
Dr Campbell said: "This was fundamentally a translational research project, where data obtained from patient samples critically informed the direction of our pre-clinical studies. Our findings have shed light on a novel mechanism of neurodegeneration that may ultimately teach us more about common forms of dementia."
Co-author Dr Conor Delaney added: "The most exciting aspect of our study is that we have now homed in on a novel pathway that to date has not been explored in great detail. Additionally, our data suggest that modifying white blood cell function may be therapeutically relevant for progressive neurodegenerative conditions."
Campbell, M et al. EMBO Molecular Medicine 22 December 2020; doi: 10.15252/emmm.202012889
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