Researchers have shown how DNA errors contribute to neurodegenerative diseases such as Alzheimer’s disease and Parkinson’s disease.
A team from the Medical Research Council at the University of Cambridge, UK, investigated the effects of spontaneous errors in DNA that arise as cells divide and replicate.
Professor Patrick Chinnery and colleagues thought that groups of brain cells containing this type of genetic errors could cause the production of misfolded proteins throughout the brain, and eventually trigger neurodegenerative disease.
In Nature Communications on Monday (15 October) the team explain how they used a new technique to sequence 102 genes in brain cells over 5,000 times.
Spontaneous mutations were found in 27 out of the 54 brains tested, including both healthy and diseased brains.
They state: "These findings suggest that the mutations would have arisen during the developmental phase – when the brain is still growing and changing – and the embryo is growing in the womb."
Next, the team combed their results with mathematical modelling and found that areas of brain cells with these mutations are likely to be common in the general population.
Professor Chinnery said: "As the global population ages, we’re seeing increasing numbers of people affected by diseases such as Alzheimer’s, yet we still don’t understand enough about the majority of these cases.
"These spelling errors arise in our DNA as cells divide, and could explain why so many people develop diseases such as dementia when the individual has no family history.
“These mutations likely form when our brain develops before birth – in other words, they are sat there waiting to cause problems when we are older."
Keogh, M. J. et al. High prevalence of focal and multi-focal somatic genetic variants in the human brain. Nature Communications 15 October 2018; doi: 10.1038/s41467-018-06331-w
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