Autism is a developmental condition that affects about 1 in 59 children, with boys being four times more likely to have it than girls. Children with autism often find it difficult to communicate, and these struggles can lead to behavioral differences.
While the exact causes of autism are still unclear, researchers have been working to understand the biological factors behind it.
A recent study by scientists at Northwestern University has uncovered a key genetic factor that could explain how autism develops. The study found that a specific genetic change can prevent the brain from forming enough synapses during critical stages of development.
Synapses are tiny structures that allow brain cells to communicate with each other. When there are fewer synapses, brain communication is reduced, which can impair learning and lead to developmental disorders like autism.
Previous research had already linked a gene called ANK3, which produces a protein called ankyrin-G, to various neurodevelopmental disorders such as intellectual disabilities, autism, schizophrenia, and bipolar disorder.
However, scientists did not fully understand how changes in this gene might contribute to autism at a biological level.
This new study revealed that ankyrin-G plays an important role in helping brain cells develop properly.
Specifically, it supports the growth of dendritic spines, which are tiny extensions at the ends of dendrites—the tentacle-like parts of brain cells. These spines are crucial for creating synapses and connecting brain cells to form a network.
For ankyrin-G to do its job, it needs to work together with another protein called Usp9X. Usp9X is an enzyme that stabilizes ankyrin-G, ensuring it functions correctly.
When this partnership works as it should, the brain forms many synapses during early development, allowing brain cells to communicate effectively.
The researchers discovered that when Usp9X doesn’t function properly, ankyrin-G levels drop significantly. This happens during a critical period shortly after birth, which is an essential time for brain development.
In experiments with mice, the researchers observed that low levels of ankyrin-G led to fewer synapses in the brain. The affected mice showed problems with brain function, behavior, and learning that persisted into adulthood.
The study also highlighted how the reduced number of synapses limits communication between brain cells. This lack of communication can explain some of the difficulties seen in individuals with autism, such as learning challenges and struggles with social interaction.
Overall, the findings suggest that mutations in the Usp9X gene may be a potential cause of autism. The researchers believe these genetic changes disrupt the critical processes needed for proper brain development, leading to fewer synapses and reduced brain function.
This study provides important insights into the biological mechanisms behind autism, offering a clearer understanding of how genetic factors can affect brain development. The research, led by Peter Penzes, was published in the journal Neuron.
These discoveries could eventually help guide new approaches to early diagnosis and treatments for autism, improving outcomes for affected individuals.
If you care about autism, please read studies about a new cause of autism, and cats may help decrease anxiety for kids with autism.
For more information about health, please see recent studies about vitamin D that may hold the clue to more autism, and results showing strange eating habits may signal autism.
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