Autism is a developmental condition that affects how a person communicates, behaves, and interacts with others.
It is fairly common, impacting about 1 in every 59 children, and boys are four times more likely to be diagnosed than girls.
Even though autism is so widespread, scientists still don’t fully understand what causes it. But now, new research may help explain part of the puzzle.
Researchers at Northwestern University have made a breakthrough by discovering how changes in certain genes may lead to autism. Their study focuses on how genetic problems during early brain development can stop brain cells from forming proper connections.
In the brain, cells talk to each other through connections called synapses. These are tiny structures that allow brain cells to send signals back and forth. Synapses are critical for learning, memory, and all kinds of thinking.
When there are fewer synapses, brain cells can’t communicate well, which can lead to problems with learning and behavior—traits often seen in people with autism.
One key gene in this study is called ANK3. It produces a protein known as ankyrin-G, which helps form small extensions on brain cells called dendritic spines. These spines are where synapses grow. Without enough of these spines, brain cells struggle to connect and form networks.
Another important protein in this process is called Usp9X. This protein acts like a helper enzyme that keeps ankyrin-G stable and working properly. If Usp9X doesn’t work the way it should, then ankyrin-G levels drop, and dendritic spines don’t grow properly. As a result, synapses don’t form as they should.
The scientists found that this problem happens during a critical time just after birth, when the brain is growing quickly and forming many new connections. If the Usp9X protein isn’t doing its job, brain cells miss their chance to build strong connections, which can affect thinking, learning, and behavior later in life.
To understand this better, researchers tested their findings in mice. They found that mice with lower levels of ankyrin-G had fewer synapses in their brains. These mice also had learning and behavior problems that continued into adulthood.
Their brains showed signs similar to what is seen in people with autism—such as difficulties with communication and social behavior.
This study suggests that mutations in the Usp9X gene could be one of the causes of autism. If this gene doesn’t work correctly, it disrupts brain development and reduces the number of synapses. This could explain why people with autism often have challenges in learning and socializing.
The study was led by researcher Peter Penzes and published in the journal Neuron. It gives scientists a better idea of how autism may develop at the molecular level. While this research is still in the early stages, it could lead to new ways to diagnose autism earlier or create treatments that help brain cells form better connections.
Understanding how proteins like ankyrin-G and Usp9X affect the brain gives us new hope. In the future, doctors may be able to support healthy brain development by stabilizing these proteins or encouraging the growth of synapses. This could make a real difference for people with autism.
This study is a big step forward in learning how genes and brain biology work together in autism. With more research, these findings could lead to better support and improved lives for people on the autism spectrum.
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