Autism Gene Mutation Causes Too Many Brain Connections

Autism Overview

Autism spectrum disorder is a condition related to brain development that impacts how a person perceives and socializes with others, causing problems in social interaction and communication.

The disorder also includes limited and repetitive patterns of behavior. The term “spectrum” in autism spectrum disorder refers to the wide range of symptoms and severity.


Autism spectrum disorder includes conditions that were previously considered separate — autism, Asperger’s syndrome, childhood disintegrative disorder and an unspecified form of pervasive developmental disorder. Some people still use the term “Asperger’s syndrome,” which is generally thought to be at the mild end of autism spectrum disorder.

Autism spectrum disorder begins in early childhood and eventually causes problems functioning in society — socially, in school and at work, for example. Often children show symptoms of the disorder within the first year. A small number of children appear to develop normally in the first year, and then go through a period of regression between 18 and 24 months of age when they develop autism symptoms.

Autism Gene mutation

Scientists say people with autism might have too many brain connections, causing communication problems in their nervous systems.

At the root of the issue is a malfunctioning gene within the brain cells called neurons. The RNF8 gene helps to regulate the connections, known as synapses, between these neurons that allow communications to travel between them.


When that gene is not working properly, too many synapses form and overload the system — they confuse the brain. Scientists say this could be one of the key causes of symptoms in autism, the developmental disorder characterized by social difficulties.

“You might think that having more synapses would make the brain work better, but that doesn’t seem to be the case,” senior author Dr. Azad Bonni said in a statement from the Washington University School of Medicine. “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.”

The researchers saw this in action when they removed the RNF8 gene from rodents’ cerebellums, one of the regions of the brain that is affected by autism and a control center for a person’s motor skills and cognitive functions like language.

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