Scientists map key protein interactions linked with profound autism

This image shows a section of an organoid. Organoids are lab-grown tissues that model the human brain. A new study used brain organoids to probe key protein interactions that may be linked to profound autism. Courtesy of the UCSF Quantitative Biosciences Institute hide caption

Scientists have now gotten closer to understanding how gene mutations may lead some people to develop profound autism.

The clues, they say, lie in the murky space between genes and disease — where key proteins come together and interact.

A team of researchers from UC San Francisco mapped more than a thousand interactions between many proteins that come from certain autism risk genes. This molecular atlas, published in the journal Science , could point researchers toward new and promising treatments.

"It's an unprecedented resource for the field," says Dr. Daniel Geschwind , a professor of human genetics, neurology, and psychiatry at UCLA who was not involved with the study. "A lot of people interested in understanding autism and drug development are going to be using this."

For families affected by profound autism, it offers hope for eventual drug therapies. "This is the kind of scientific advance we have been waiting for and praying for," says Alison Singer , president of the nonprofit Autism Science Foundation, who has a daughter with severe cognitive impairment. "There's still a lot of work ahead, [but] this paper makes the path from genetic discovery to treatment much clearer."

The work builds on progress made in recent years to identify single genes that harbor mutations found in a subset of individuals with profound autism.

People with profound autism often live with severe intellectual disability and require around-the-clock care. They're nonverbal or minimally verbal, and often have serious medical conditions like epilepsy.