• Research

    Fetal Neural Mutations Linked to Adult Health

Mayo Clinic researchers, along with colleagues from Yale, Stanford and the New York Genome Center, have published findings that show myriad mutations occur early in late embryonic and early fetal development that could be predictors of later adult health. The details of their discovery appear in Science.

Alexej Abyzov, Ph.D.

“This is a relatively new field, but one that may be important in helping to understand an individual’s health and aid in prevention and treatment,” says Alexej Abyzov, Ph.D., a Mayo Clinic biomedical scientist and co-senior author of the article.

Researchers say this type of mutation, called mosaic, is a product of the rapid cell development needed for growth at this stage of human development, along with high oxidative damage at the same stage. The research team looked at brain cell mutations between 15 and 21 weeks of development, roughly the mid-term of pregnancy. By cloning the cells, they were able to determine the number of mutations present at between 200 and 400 per cell and a mutation rate of just over 1 mutation per cell division.

The mutations can contribute individual disease risk ranging from cancer to neurological disorders. Some of these can be passed on to successive generations. This is so significant that the researchers suggest that knowing an individual’s “mosaicome” could be as important as knowing their genome, in predicting future health.

The research was funded by Yale University, the National Institutes of Health, and the Mayo Clinic Center for Individualized Medicine.