Science is always advancing. People are always learning. Studies and research are always underway in order to discover bits and pieces of the world not yet known. One of the latest revolutions in autism study specifically, is a discovery of what could possibly be its root cause, and also some possible cures.

What is autism and what are its signs?

Autism affects over 2 million individuals in the United States, and over tens of millions worldwide (1). Studies reveal that autism is four to five times more common amongst boys than girls. One out of every 42 boys and 1 out of 189 girls are diagnosed with autism in the U.S. alone (1). Simply put, autism is a “pervasive neuro-development condition which affects a person’s ability to communicate and interact with others” (1). Typically, individuals suffering from autism have difficulty understanding normal social cues and behaviors, and consequently have a challenging time engaging with the people around them. Symptoms manifest slightly differently, with varying degrees of severity, in each individual and it is currently one of the fastest growing neurological conditions on the globe (1).

What causes autism?

Many people have claimed that the condition was caused by vaccines, but scientists currently rebuke that theory saying that they now believe they’ve found the root cause. A new study indicated that autism could be caused by having too many synapses (2). A synapse is a junction between two nerve cells consisting of a minute gap that impulses pass by diffusion of a neurotransmitter.

Azad Bonni, Head of the Department of Neuroscience at Washington University School of Medicine in St. Louis, says, “You might think that having more synapses would make the brain work better, but that doesn’t seem to be the case. An increased number of synapses creates miscommunication among neurons in the developing brain that correlates with impairments in learning, although we don’t know how” (3).

There have been many genes linked to people with autism, but the six that scientists have found most influential are ubiquitin ligases, which are the genes responsible for attaching molecular tags (ubiquitins) to proteins. They function much like a manager, telling cells how to handle the tagged proteins (this one is discarded, that one must be rerouted, the next must increase its activity, etc.).

Gene mutations are thought to prevent ubiquitin ligases from working properly, which then causes autism. In order to find out how and why this happens, scientists at Washington University tested on young mice by removing the RNF8, a ubiquitin gene, from the neurons in the cerebellum – the area of the brain that is affected by autism (2).

Ultimately, the study revealed an interesting relationship between synapses and behavior. Removing RNF8 caused the mice to produce 50% more synapses than normal mice, and the electrical signal in their neurons was twice as strong; significantly decreasing the mice’s ability to learn.

Conclusion

While scientists have yet to prove synapses’ direct influence on autism, they strongly believe it is highly linked. More studies are underway to further explore the situation. “More work needs to be done to verify this hypothesis in people, but if that turns out to be true, then you can start looking at ways of controlling the number of synapses. It could potentially benefit not just people who have these rare mutations in ubiquitin genes but other patients with autism,” Bonni said.

 

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