New research, which hopes to discover the origins of autism, has been carried out by Flora Vaccarino, a Yale physician and neurobiologist, and her colleagues. Using reprogrammed skin cells, the scientists were able to grow a large group of miniature proto-brains in their lab, which they hoped would show the early days of the brain’s development. By studying these clusters of tiny embryonic brain cells, the researchers were able to observe how the autistic brain overproduces certain brain cells, in particular cells which would normally control neural activity. This results in a brain with an imbalance of excitatory and inhibitory neurons which, while a very subtle difference from a typical developing brain, possibly explains some of the characteristics exhibited by those with autism.
Furthermore, following the suppression of a single gene that proved to be abnormally active in organoids created from patients with autism, it was possible to correct this imbalance.
While this research is very much in its infancy, Vaccarino and her team are hoping that it may be possible in the future to diagnose and treat autism prior to, or just after, birth. Certainly, being able to identify the cause and correct this imbalance gives the researchers a focus for developing appropriate treatments.
The methods used by Vaccarino and her team are innovative in this area of research. By using new lab procedures they were able to make skin cells revert to an undifferentiated form, similar to the stem cells of embryos, which were encouraged to start to the process of developing a brain. The skin cells came from four patients with characteristics typical of those with severe autism, with a control ‘organoid’ made of skin cells from the patients’ fathers who were unaffected by autism.
The cells were allowed to divide, differentiate and grow for up to 100 days, giving the researchers plenty of opportunities to monitor compare the development of autistic and normal brains during the second trimester of pregnancy. While this process was incapable of generating a true brain, the proto-organ did exhibit differentiation, however in order to find the root of autism and discover a treatment, brain development needs to monitored right from the start and this is only possible by using a brain built from stem cells.