07 October 2015

Mutant neurons

It turned out that adult brain cells contain thousands of mutations

A research team from the Howard Hughes Medical Institute has found out that the genome of a single neuron can contain more than a thousand mutations.

Christopher Walsh and his colleagues note that mutations occur during the expression of genes that are activated during brain maturation. The effect of these mutations on brain function is still unknown, but the authors believe that studying the frequency, distribution and nature of these genetic changes in cells will help to obtain new data on brain development.

Scientists used the technology of sequencing the genome of single cells, thus analyzing the genomes of 36 neurons taken from the brain of 3 postmortem donors. The data on gene expression and detected mutations were compared with similar data obtained by analyzing the genomes of heart cells. More than 1,000 point mutations have been found in neurons. The authors emphasize that these mutations differed from the genetic changes that occur during the development of cancer: they were not the result of DNA copying disorders, but appeared during gene expression.

Most of the detected mutations were unique, but some of them were present not in one, but in several cells located in different areas of the brain. This indicates that these mutations arose during embryonic development while brain cells were still dividing. Using these data, scientists were able to trace how the distribution of cells occurred during brain maturation.

It was also important that many of the mutations described by the authors could cause the development of serious diseases, but the simultaneous presence of mutant and healthy neurons in one area of the brain prevented the occurrence of brain disorders.

Article by Lodato et al. Somatic mutation in single human neurons tracks developmental and transcriptional history published in the journal Science – VM.

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