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Somatic mutations naturally occur in cells throughout human development and during aging. However, it has yet to be determined whether the frequency of somatic mutations in the population are a contributing factor to the cause of neuropsychiatric disorders, cancers, and various diseases.
Alexej Abyzov, Ph.D., a Mayo Clinic genomics researcher, seeks to gain a better understanding of genomic variants so that one day it will be possible to identify individual genetic risks in diseases, monitor these risks during a person’s lifetime, personalize medical treatment and improve therapy.
In a study released in Science, Mayo Clinic researchers analyzed the somatic variants in 131 human brains. The analysis included 44 neurotypical brains, 19 with Tourette syndrome, nine with schizophrenia, and 59 with an autism spectrum disorder.
Researchers highlighted the following findings:
“We found a subset of mutations seems to be in hypermobility,” says Dr. Abyzov, lead author. “Given the association of hypermutability with age and its frequent localization in one brain region, we hypothesized that it could be related to gliogenesis in adult brains.”
Read the rest of the article on the Center for Individualized Medicine blog.
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