Research shows a root cause of autism

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Autism is a developmental condition that affects about 1 in 59 children. It often leads to challenges in communication and differences in behavior. Boys are four times more likely to be diagnosed with autism than girls.

Although it is common, the exact reasons why autism occurs are still not fully understood. Researchers have been searching for answers for many years, trying to uncover what causes this condition at a biological level.

Recently, scientists at Northwestern University made an important discovery that could help explain how autism develops. They found a connection between certain genetic changes and the way the brain forms connections during early development.

These connections, known as synapses, allow brain cells to communicate with each other. Proper communication between brain cells is essential for learning and everyday brain functions.

Synapses are tiny structures that act as bridges between brain cells, helping them send signals back and forth. If there are not enough synapses, these signals become weak, making it harder for the brain to process information correctly. This can contribute to developmental challenges like autism.

The researchers believe that understanding how these synapses form—and what can go wrong—might reveal new ways to help people with autism.

One of the main focuses of the study was a gene called ANK3. This gene produces a protein called ankyrin-G, which is important for brain development.

Scientists already knew that problems with the ANK3 gene were linked to various brain conditions like autism, intellectual disabilities, schizophrenia, and bipolar disorder. However, until now, they didn’t fully understand why.

The new study showed that ankyrin-G is crucial for creating tiny structures called dendritic spines. These spines grow on the ends of dendrites, which are tentacle-like parts of brain cells. Dendritic spines are very important because they help form synapses, connecting brain cells to create networks.

When there are fewer dendritic spines, fewer synapses are formed, and brain cells struggle to communicate properly. This breakdown in communication may contribute to the symptoms seen in autism, such as challenges in social interaction and learning.

The researchers also discovered that for ankyrin-G to work correctly, it needs help from another protein called Usp9X. Usp9X acts like a helper, keeping ankyrin-G stable so it can do its job in the brain. Without Usp9X, ankyrin-G levels drop sharply, making it difficult for dendritic spines to grow.

This is a big problem because the brain goes through rapid development shortly after birth, and this is when many important connections are made. If Usp9X is not working well during this time, it can disrupt brain development and lead to fewer synapses. This could explain why some children develop autism.

To understand this better, the researchers studied mice with lower levels of ankyrin-G. They found that these mice had fewer synapses in their brains. They also had problems with learning and behavior, which continued as they grew older.

These difficulties in brain communication are similar to what people with autism experience. The mice showed signs of struggle with memory and interacting with their surroundings, much like the social and learning difficulties seen in children with autism.

The researchers believe that changes, or mutations, in the Usp9X gene might be a cause of autism. When Usp9X does not work correctly, it interferes with the brain’s ability to build the connections it needs to function properly. This finding is significant because it may help explain why people with autism have trouble learning and interacting with others.

This study, published in the journal Neuron and led by researcher Peter Penzes, is an important step forward in understanding autism. By learning how genes like Usp9X and ankyrin-G affect brain development, scientists are getting closer to discovering ways to diagnose and treat autism earlier.

It also opens the door for new therapies that could help improve brain communication by supporting the growth of synapses.

Although more research is needed, these findings bring new hope. Scientists are now considering ways to stabilize proteins like ankyrin-G or enhance synapse formation as a potential treatment for autism. This could mean big changes for how autism is managed in the future, offering better support and improved quality of life for those affected.

Understanding the genetic and biological roots of autism is a major step toward finding solutions. With continued research, scientists hope to uncover more about how the brain develops and what can be done to support those with autism.

This discovery is just the beginning, but it brings hope for better understanding and new possibilities for treatment in the years to come.

If you care about autism, please read studies about food additives and ADHD, and natural fixes for ADHD.

For more health information, please see recent studies about nutrition’s role in managing ADHD, and this type of food may contribute to autism.

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