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Somatic mutations accumulate in ageing and diseased neurons

Nature Reviews Neurology volume 14, page 64 (2018)Cite this article

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Ageing increases the incidence of neurodegenerative diseases and also increases the occurrence of markers of DNA damage in the brain. However, due to methodological constraints, it has been unclear whether somatic mutations accumulate in mature neurons of the human brain. In the new study, Lodato and colleagues used single-cell whole-genome sequencing to compare the genomes of single postmitotic neurons.

The researchers analysed 93 neurons from the prefrontal cortex of 15 neurologically normal individuals (aged between 4 months and 82 years), 26 neurons from the hippocampal dentate gyrus of 6 of the same individuals and 42 neurons from the prefrontal cortex of 9 individuals with early-onset neurodegenerative disease (either Cockayne syndrome or xeroderma pigmentosum). Single neuronal nuclei were isolated by flow cytometry before whole-genome sequencing analyses, and a new bioinformatics pipeline called Linked-Read Analysis (LiRA) was used to identify somatic single-nucleotide variants (sSNVs).

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References

  1. Lodato, M. A. et al. Aging and neurodegeneration are associated with increased mutations in single human neurons. Science http://dx.doi.org/10.1126/science.aao4426 (2017)

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Authors
  1. Shimona Starling
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Starling, S. Somatic mutations accumulate in ageing and diseased neurons. Nat Rev Neurol 14, 64 (2018). https://doi.org/10.1038/nrneurol.2017.181

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