A disturbance in the calcium transport mechanism in the brain could be associated with autism and intellectual disability, according to McGill University research.
These findings overturn a well-established belief among neuroscientists and could pave the way for new treatments.
“It completely changes our understanding of how the brain works,” said Professor Derek Bowie of McGill’s School of Biomedical Sciences. “We now have a sort of framework for understanding how autism works.”
Bowie and his team found that, contrary to what was previously thought, brain structures known as AMPA receptors can transport calcium very efficiently.
The researchers hypothesized that mutations in these receptors may play a role in autism and intellectual disability, which would be logical in light of previous studies that suggested a possible association between disturbances in calcium signaling and neurological disorders.
Bowie pointed out that calcium is an essential signaling molecule that regulates learning and memory.
“In the brain, small changes in calcium can be very important,” he said. “When it comes to learning something, calcium is like the key that starts the car engine. It’s calcium that tells the brain that it has to retain information.”
When the researchers modified AMPA receptors in the laboratory, they found that their efficiency went haywire: either they transported too much calcium to the brain, or they didn’t transport enough.
“Each neuron has to receive the right amount of calcium,” said Bowie. “If it gets too much, or if it doesn’t get enough, the problems start.”
This has absolutely nothing to do with the calcium found, or not found, in the patient’s diet, he said. It’s really the mechanisms involved in transporting this calcium to the brain that are at fault.
The scientists point out that, in addition to their link with autism and intellectual disability, AMPA receptors play a role in a range of neurological disorders, including amyotrophic lateral sclerosis (Lou Gehrig’s disease), glaucoma, dementia and glioblastoma multiforme, a brain cancer.
This breakthrough paves the way for the development of new therapies, starting with genetic modifications using gene-editing tools such as CRISPR.
But more realistically, Bowie said, we could try to develop “intelligent molecules” to overcome AMPA receptor mutations.
“We could perhaps increase or decrease the action of AMPAs, depending on the situation,” concluded the researcher.
The findings of this study have been published in the prestigious scientific journal Nature.
This report by The Canadian Press was first published in French April 3, 2025.
