Autism, a developmental disorder, affects about 1 in 59 children, and it is four times more common in boys than in girls. People with autism often face challenges with communication and may show these difficulties through differences in behavior.
Understanding what causes autism has been the focus of many scientific studies, and researchers continue to search for answers.
A recent study led by Northwestern University researchers has uncovered a new genetic factor that could play a key role in autism development.
The team found that certain genetic changes could reduce the number of synapses—connections between brain cells—during a critical period of brain development.
This reduction in synapses could impact how well the brain functions, potentially leading to learning difficulties, autism, and other disorders.
The study focused on a gene called ANK3, which produces a protein called ankyrin-G. Previous research has linked this gene to various neurodevelopmental disorders, such as autism, intellectual disability, schizophrenia, and bipolar disorder.
However, until now, scientists did not fully understand how changes in this gene could lead to autism at the biological level.
The research team discovered that ankyrin-G plays an essential role in brain development by helping brain cells form connections with one another.
Specifically, it helps maintain the growth of dendritic spines—tiny extensions at the ends of brain cells that connect with other cells at the synapses. Synapses are crucial because they allow brain cells to communicate with each other.
For ankyrin-G to do its job properly, it needs to work together with an enzyme called Usp9X. This enzyme stabilizes ankyrin-G, ensuring that it can help the dendritic spines grow and develop normally.
If this process works as it should, brain cells will form many synapses, allowing for smooth communication between cells.
However, the researchers found that when Usp9X does not function correctly, it disrupts the entire process. Without Usp9X to stabilize it, ankyrin-G levels in the brain drop.
This leads to fewer synapses forming, which means less communication between brain cells. The researchers believe that this could be a key factor in the development of autism and related disorders.
The study used mice to explore the effects of Usp9X dysfunction. Mice with lower levels of ankyrin-G after birth showed noticeable brain damage. They also exhibited persistent problems in their behavior and had clinical abnormalities that persisted into adulthood.
These issues appeared to be directly linked to the lack of synapses in their brains, which affected how well their brain cells could communicate with each other.
The results of the study highlight the potential role of genetic mutations in Usp9X as a cause of autism. By reducing the ability of brain cells to form connections, these mutations could impair learning and contribute to the behavioral challenges seen in people with autism.
This research adds an important piece to the puzzle of autism. By better understanding the genetic and biological factors that contribute to the disorder, scientists hope to develop new ways to diagnose and potentially treat autism and other neurodevelopmental conditions in the future.
The study was led by Peter Penzes and his team, and the findings were published in Neuron.
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
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