Scientists from Mayo Clinic and Yale University have made significant progress in understanding the possible origins of autism spectrum disorder (ASD).
By using advanced “mini-brain” models called organoids, they discovered an imbalance in specific brain cells, shedding light on how ASD might develop during early brain formation.
ASD is a neurological condition that affects how people interact socially and behave. It exists on a spectrum, ranging from mild conditions like Asperger’s syndrome to more severe forms of autism.
According to the Centers for Disease Control, approximately 1 in 36 children in the U.S. is diagnosed with ASD, making it a pressing area of research.
The scientists focused on the forebrain, a region critical for decision-making, social interaction, and sensory processing.
They found that individuals with autism showed an imbalance in excitatory cortical neurons, a type of brain cell that helps transmit signals. This imbalance was also linked to head size, a trait that has been associated with some cases of autism.
Using Mini-Brains to Unlock Clues
Organoids are tiny, three-dimensional models of the brain that mimic how the brain develops in the womb.
Alexej Abyzov, Ph.D., from the Mayo Clinic, explained that these models allow researchers to study the early stages of brain development, a period believed to be crucial in the origins of ASD.
To create these organoids, the researchers took skin cells from individuals with autism and reprogrammed them into a state similar to stem cells.
These versatile cells were then guided to develop into brain-like structures. This innovative approach provided a unique opportunity to study how brain cells develop in individuals with autism.
Gene Clues and Advanced Techniques
To better understand the changes in brain cells, the team used a method called single-cell RNA sequencing. This allowed them to analyze gene activity in individual brain cells.
By examining over 664,000 cells across three stages of development, they identified changes in certain genes that play key roles in brain formation.
This research builds on over a decade of work by Dr. Abyzov and his collaborators, including Dr. Flora Vaccarino from Yale University.
In earlier studies, they pinpointed molecular differences in organoids from people with and without autism. One specific gene, FOXG1, emerged as a potential trigger for ASD.
A Hopeful Vision for the Future
Dr. Abyzov hopes this research could one day lead to prenatal genetic testing to assess the risk of autism before a child is born. While this idea is still far from reality, it highlights the importance of understanding how brain regulation changes during development.
Organoids are likely to play a key role in advancing this understanding. They offer a powerful tool for studying how specific genes and cells contribute to brain development and how these processes might go awry in autism.
This groundbreaking study was published in Nature Neuroscience, bringing us closer to unraveling the complexities of ASD and paving the way for potential early interventions.
If you care about autism, please read studies that cats may help decrease anxiety for kids with autism and new study may develop better treatment for autism
For more information about health, please see recent studies about how to eat your way to a healthy brain, and results showing this type of food may contribute to autism.
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