A new genetic discovery reveals the main cause of autism

A significant scientific discovery from Northwestern University in Illinois has shed light on one of the main causes of autism, a developmental disorder that affects how a person communicates, behaves, and interacts with others, according to the Daily Herald.

Autism affects about 1 in 59 children, and boys are four times more likely to be diagnosed than girls.

Although it is quite widespread, scientists have not fully understood what causes it. This new study, however, may reveal a crucial piece of the puzzle.

The team led by Professor Peter Penzes discovered that changes in certain genes can hinder the normal development of the brain in early stages, affecting how nerve cells create connections between each other.

In the brain, cells communicate through synapses microscopic structures that allow the exchange of signals. These are essential for learning, memory, and thinking.

When synapses are fewer, communication between nerve cells weakens, which may lead to difficulties similar to those observed in people with autism.

When synapses are fewer, communication between nerve cells weakens, which may lead to difficulties similar to those observed in people with autism.

One of the key genes in the study is ANK3, which produces a protein called ankyrin-G. This protein helps form dendrites small extensions of nerve cells where synapses grow.

If there is not enough ankyrin-G, these connections do not develop properly. Another essential protein is Usp9X, which keeps ankyrin-G stable.

When Usp9X does not function properly, ankyrin-G levels drop, and consequently, synapses do not form normally. This process occurs during a critical period right after birth, when the brain grows and rapidly creates new connections.

To test this theory, the researchers conducted experiments on mice with low levels of ankyrin-G. The results showed that they had fewer synapses and displayed difficulties in learning and behavior, similar to those seen in people with autism.

According to the authors, mutations in the Usp9X gene may be one of the possible causes of autism, as they impair the formation of nerve connections essential for cognitive and social development.

This discovery, published in the journal Neuron, could pave the way for earlier diagnoses and new treatments that strengthen synapse formation or stabilize key proteins such as ankyrin-G and Usp9X.

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