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Mutant Brain Proteins Linked to Autism

Breakthrough Findings in Autism ResearchScientists continue to gain insights into the causes of autism, possibly opening doors for potential new treatments.

Researchers from Auckland University’s Centre for Brain Research in collaboration with Stanford University found that autism is linked with mutated brain proteins, called Shank3, which weaken communication between brain cells.

The discovery is exciting because it means treatments can be investigated, said head researcher Jo Montgomery, Ph.D.

“Brain cells are incredibly sociable cells in the brain and they talk to each other all the time,” she said.

“There are about 10 trillion brain cells connected by about 10 billion synapses which gives you an idea of how much chatter is going on in your brain at one time, and all that chatter underlies how you see things, how you move, how you learn and how you remember things.”

“What we showed is that when you have these autism-associated mutations, this changes how synapses in the brain function,” she said.

Under normal conditions, Shank3 protein provides a foundation for receiving information and helps the synapse “talk back,” explained Montgomery. However, mutated Shank3 proteins, found in people with autism, do not work.

“This is a very hot area of research at the moment because there is no known cause to autism,” she said. “There is a very strong genetic link but the problem is not everyone has the same genetic mutation, which makes it very difficult to find out what is causing autism and how we treat it.”

Now that the first wave of research has shown what is happening, researchers need to target the mutated proteins, said Montgomery.

“We can try and rescue normal behavior and cognitive abilities in children who are very far in the autism spectrum and are severely disabled by this disorder,” she said.

Source: Journal of Neuroscience


Mutant Brain Proteins Linked to Autism

Traci Pedersen

Traci Pedersen is a professional writer with over a decade of experience. Her work consists of writing for both print and online publishers in a variety of genres including science chapter books, college and career articles, and elementary school curriculum.

APA Reference
Pedersen, T. (2018). Mutant Brain Proteins Linked to Autism. Psych Central. Retrieved on February 22, 2019, from
Scientifically Reviewed
Last updated: 8 Aug 2018
Last reviewed: By a member of our scientific advisory board on 8 Aug 2018
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