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Thousands of Mutations Accumulate in the Human Brain Over a Lifetime

Single-cell genome analyses reveal the amount of mutations a human brain cell will collect from its fetal beginnings until death.

Written byRuth Williams
| 5 min read

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ISTOCK, JEZPERKLAUZENTwo studies in Science today (December 7)—one that focuses on prenatal development in humans, the other on infancy to old age—provide insights into the extent of DNA sequence errors that the average human brain cell accumulates over a lifetime. Together, they reveal that mutations become more common as fetuses develop, and over a lifetime a person may rack up more than 2,000 mutations per cell.

“I think these are both very powerful technical papers, and they demonstrate how single-cell sequencing . . . can reliably detect somatic changes in the genomes of human neurons,” says neuroscientist Fred Gage of the Salk Institute in La Jolla who was not involved in either study.

“What’s cool about [the papers] is that they show two different ways that one can look at somatic mutations in single human neurons . . . and yet they get consistent results,” says neuroscientist Michael McConnell of the University of Virginia School of Medicine.

Cells of the human body acquire mutations over time, whether because of errors introduced during DNA replication or damage incurred during transcription and other cellular processes. But, until recent technological developments enabled whole genome ...

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Meet the Author

  • ruth williams

    Ruth is a freelance journalist. Before freelancing, Ruth was a news editor for the Journal of Cell Biology in New York and an assistant editor for Nature Reviews Neuroscience in London. Prior to that, she was a bona fide pipette-wielding, test tube–shaking, lab coat–shirking research scientist. She has a PhD in genetics from King’s College London, and was a postdoc in stem cell biology at Imperial College London. Today she lives and writes in Connecticut.

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