The causes of autism spectrum disorder (ASD) have long been a mystery, but that’s not stopped speculation.
In April, U.S. Health and Human Services Secretary Robert F. Kennedy Jr. pledged to have the cause of autism identified by September. He said that would be accomplished through a “massive testing and research effort.”
The same month RJK Jr. made that promise, Łukasz Sznajder, a molecular geneticist and assistant professor of chemistry and biochemistry at UNLV, had a study published in the journal Nature Neuroscience.
After around four years of research, he and his colleagues found that a genetic mutation in a gene tied to the development of myotonic dystrophy type 1 — a condition affecting the musculoskeletal system — can disrupt the expression of multiple autism-related genes during brain development, contributing to autism.
Though more research is needed, Sznajder said that “30% or even more of children with the congenital version of myotonic dystrophy type 1 can have autism spectrum disorder.”
When thinking about the link between the two conditions, Sznajder noted, it is important to consider the systemic effects myotonic dystrophy has on the body.
“The same mutation which is causing problems with the muscles,” he said, “is kind of active during brain development.”
Sznajder and his colleagues’ findings are significant for Southern Nevada, where 16% of CCSD’s student body, or about 51,000 children, carried an autism spectrum diagnosis in 2020. That’s six points higher than the national average, and four points higher than the state average.
He hopes that his findings could help pioneer treatments for these students, as well as future generations of people born with myotonic dystrophy and ASD.
“There is a clinical trial for a drug, which is known as Tideglusib,” said Sznajder. “This is a drug which is typically for individuals with congenital myotonic dystrophy. And this particular medication is helping with the central nervous system. And as the company who is doing this clinical trial reported, already, they notice less autism-related symptoms.”
Guest: Łukasz J. Sznajder, molecular geneticist and professor of chemistry and biochemistry, UNLV
