Autism is a developmental condition that affects how a person communicates and interacts with others. It is diagnosed in about 1 in 59 children and is four times more common in boys than in girls. While scientists have known that autism is linked to differences in brain development, the exact biological reasons behind these differences have remained unclear.
A recent study from Northwestern University has uncovered a genetic factor that may play a key role in autism. Researchers found that a specific gene affects how brain cells form connections during early development.
These connections, called synapses, allow brain cells to communicate. When fewer synapses form, communication between brain cells is reduced, which may contribute to autism and other neurodevelopmental disorders.
Previous studies had already suggested that a gene called ANK3, which produces a protein called ankyrin-G, is linked to conditions such as autism, schizophrenia, bipolar disorder, and intellectual disability. However, until now, scientists did not fully understand how variations in this gene lead to autism at the biological level.
The new study found that ankyrin-G is essential for brain development because it helps maintain dendritic spine growth. Dendrites are branch-like extensions of brain cells that reach out and form connections with other cells at synapses. These connections allow the brain to process information and learn new things.
However, ankyrin-G cannot do its job alone. It needs another protein, Usp9X, which acts like a stabilizer. Usp9X ensures that ankyrin-G remains at the right levels to support dendrite growth. When Usp9X is working properly, brain cells form many synapses, allowing for smooth communication between neurons.
But when Usp9X does not function correctly, the levels of ankyrin-G drop early in brain development. As a result, fewer synapses form, limiting communication between brain cells.
The researchers tested this in mice and found that those with defective Usp9X had fewer synapses, persistent behavioral issues, and learning difficulties. The mice’s behavior reflected some of the challenges seen in autism, suggesting that the same process could be happening in humans.
These findings provide new evidence that genetic mutations in Usp9X could contribute to autism. By understanding this process, researchers may be able to develop new ways to support brain development and improve learning and communication skills in individuals with autism.
The study, led by Peter Penzes, was published in Neuron. Scientists hope that further research on this genetic pathway could lead to better treatments for autism and related conditions in the future.
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.
Copyright © 2025 Knowridge Science Report. All rights reserved.
