Study: Genetic discovery may lead to autism treatment

Fragile X is autism's greatest genetic contributor

A University of Wisconsin-Madison genetic discovery, looking at two key brain proteins in mice with the developmental disorder fragile X, has researchers hoping they could one day develop treatments for other neurological disorders, such as autism.

The Waisman Center and Department of Neuroscience study, published in this month’s journal Cell Reports, show the two fragile X proteins are critical to the proper development of mice neurons, which receive, process and send out information.

“This is the first demonstration of the additive function of fragile X proteins in neuronal development,” study author Xinyu Zhao said in a statement.

Fragile X, which makes children more prone to attention and anxiety disorders, and can also mean physical differences such as flat feet and a narrow face, is also autism’s greatest genetic contributor. The thought is if the missing proteins can be pinpointed, treatments could be developed.

“If they could do something with the protein the fragile X kids are missing that might help kids with autism as well,” autism expert and clinical psychologist Dr. Glen Sallows said.

Parents like Mark Enangst say the news brings him hope for his 4-year-old son Austin, who has autism.

“It’s needed. And there’s a place for it and everything. And if you don’t have to go through that it will be awesome,” Enangst said.

What remains unclear to researches are the proteins specific roles in different developmental disorders. UW researchers say they plan to work toward turning the mice findings into human therapies.