A team of scientists from Mayo Clinic and Yale University may have discovered some key factors behind autism spectrum disorder (ASD).
By using a special kind of model called “mini-brains,” they were able to closely examine what might go wrong in the brain during early development in people with autism.
ASD is a condition that affects how people interact with others and how they behave. It’s called a “spectrum” because it includes different conditions, from autism to Asperger’s syndrome.
The Centers for Disease Control reports that about 1 in 36 children in the United States are diagnosed with ASD.
To understand autism better, the scientists created “mini-brains,” which are small, 3D models that mimic real human brains. These models were grown from skin cells taken from people with autism.
The skin cells were first turned into a type of cell that can develop into almost any other kind of cell, including brain cells. This allowed the scientists to grow mini-brains that were very similar to the real brains of people with ASD.
The researchers paid close attention to a particular group of brain cells called excitatory cortical neurons. In people with ASD, these cells seemed to be out of balance, especially in the front part of the brain known as the forebrain.
Interestingly, this imbalance in brain cells was linked to the size of the person’s head. Many people with ASD tend to have a larger head, and this discovery may help explain why.
The mini-brains gave the scientists a unique way to look at how the brain grows during a crucial time—when a baby is still in the womb. This is thought to be the time when the early signs of ASD start to form.
According to Alexej Abyzov, Ph.D., from the Mayo Clinic, the technology used to create mini-brains allows them to see what might be happening in the brain during this early stage, which is difficult to study directly in humans.
To dig even deeper into what was going on, the team used a method called single-cell RNA sequencing. This technique helped them see the genetic activity in individual brain cells.
They studied over 664,000 brain cells from the mini-brains across different stages of brain development.
They found changes in certain genes that are important for how brain cells grow and develop during the earliest stages of life. Some of these gene changes might be involved in causing autism.
This work builds on years of research by Dr. Abyzov and his team, including Dr. Flora Vaccarino from Yale University.
In an earlier study, they identified important molecular differences between mini-brains created from people with autism and those without autism. One gene in particular, called FOXG1, stood out as a potential trigger for autism.
Looking to the future, Dr. Abyzov believes that someday it may be possible to assess the risk of autism in babies before they are even born.
This could be done through prenatal genetic testing, but for this to happen, scientists need to fully understand how the brain’s growth and regulation get disrupted in autism. Dr. Abyzov thinks that mini-brains will play a key role in helping to fill in the gaps in this knowledge.
The results of this research were published in Nature Neuroscience, and they provide new hope for figuring out how autism develops and how it might be prevented or treated in the future.
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