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A group of UNC scientists are celebrating after finding a genetic link for autism.

Through a recent study, scientists at UNC’s Maness Laboratory connected insufficient pruning of dendritic spines to a defective form of the gene NrCAM. Dendritic spines receive messages from neurons in the brain, and the overgrowth of spines has been shown to be a possible cause of autism.

It might sound like a tough concept filled with science jargon, but Patricia Maness, professor of biochemistry and the leader on this project, said it feels like a light at the end of a long, dark tunnel after two years of research for the scientists in the Maness Lab.

The discovery is by no means a cure for autism, Maness said.

“There are more than a hundred genes, but they could all fit into a similar pathway,” Maness said. “So, this is the first step.”

About 45 to 50 percent of the dendritic spines are pruned during adolescence, said Vishwa Mohan, first co-author of the project’s published research.

“There have been genetic studies suggesting that NrCAM might be a risk factor for autism, but they didn’t know what it did or how it was involved,” Maness said. 

Maness said the scientists first noticed the connection between the gene and deficient spine-pruning while studying mice with limited NrCAM.

“Normally, (NrCAM) prunes. But when it doesn’t prune we get too many synapses,” Maness said.

Recently, there have been two reports showing a connection between too many spinal densities and autism in humans, Maness said.

“We are working with computer modeling people to identify the sites of these molecules that maybe a drug would fit into,” Maness said. 

Mohan said the breakthrough could lead to a possible treatment for autism.

“Maybe we have a drug we can give it to them before they go through that adolescent period and maybe establish the correct excitatory neurons,” Mohan said. “Because we have plenty of time to make the intervention if we can come up with a drug target or anything which can rectify this spine density regulation — it could be an amazing breakthrough.”

Junior Shubham Upadhyay has been working with the Maness lab for almost a year and is currently researching the path the initial NrCAM defect takes to autism.

“Working in the real world instead of just soaking up the textbook information is very different,” he said. “And actually working with some groundbreaking research in such a great lab is an amazing opportunity.”

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