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.
