By Katie Futterman, Las Vegas Review-Journal

LAS VEGAS — A UNLV-led study has discovered a new molecular path that leads to autism, potentially opening the way for more intervention in the future.

The study by Łukasz Sznajder, a UNLV chemistry and biochemistry professor, was published on April 21 in the journal Nature Neuroscience.

It found that a gene that causes myotonic dystrophy — a genetic condition that creates progressive muscle weakness — also causes autism spectrum disorder. Researchers say the study can help with new diagnoses, prevention and treatment of autism.

“This is a landmark example of an RNA-mediated pathway to autism. It doesn’t account for all of autism, but it exposes one route among the many that lead to the spectrum,” Ryan Sultan, a psychiatrist and research director at Integrative Psych and a clinical psychiatry assistant professor at Columbia University.

Link between autism and myotonic dystrophy

Around 95% of children with autism have at least one extra condition, Sznajder said.

As a geneticist, Sznajder had long noticed a high crossover between people suffering from myotonic dystrophy and autism.

So, he posed the question: “What is happening in the brains of people with myotonic dystrophy on the molecular level, and what is happening in the brains of people with autism?”

Joined by researchers at the University of Florida as well as in Poland and Toronto, the team found that changes in the DMPK gene that cause myotonic dystrophy also cause autism-related genes to be “mis-spliced,” so multiple autism-related genes work differently. When mutated DMPK RNAs are created, they act as a sponge and absorb otherwise healthy proteins from the muscleblind-like (MBNL) family of genes — disrupting muscle and brain development.

“Many people with myotonic dystrophy also have autism, but it wasn’t clear why. Here, the scientists have found the mechanism for this — the DMPK gene regulates known autism risk genes that are important for nervous system function,” Audrey Brumback, an assistant professor of neurology and pediatrics at the University of Texas at Austin, said.

Brumback said it is important because it has the potential to develop treatments that target mis-splicing so that the healthy versions of the proteins are produced.

Autism genetic

Ample research shows that autism is a genetic disorder — it is around 60% to 90% genetics, which leaves some room for environmental factors.

The research, however, has been far less conclusive on what those genes and mutations are, Sznajder said. Different studies have shown a “laundry list” of genes that may contribute to autism.

“The message is that autism can sometimes arise from changes not in the DNA sequence of an autism gene, but in how that gene’s information is sliced and diced in the brain. It’s a more nuanced genetic influence — one that was invisible to us until techniques like RNA sequencing revealed it,” Sultan said.

But despite the overwhelming research indicating autism is primarily genetic, the issue has become increasingly contentious.

Department of Health and Human Services Secretary Robert F. Kennedy Jr. has discounted the genetic causes of autism and has said that it is from an “environmental toxin.”

Before becoming head of the department, Kennedy joined anti-vaccine advocates in claiming childhood vaccines are responsible for autism, but studies by the CDC and others have ruled that out, according to The Associated Press. A fraudulent study claiming a link to the measles, mumps and rubella vaccine was later retracted by the journal that published it, the AP said.

The Autism Society of America called Kennedy’s statements “harmful, misleading and unrealistic.”

“Autism is a complex developmental disability shaped by genetic, biological, and environmental factors. It is neither a chronic illness nor a contagion, that qualifies harmful language like “epidemic,” and to do so is both inaccurate and stigmatizing,” the organization said in a statement.

‘Connecting the dots’

That makes Sznajder’s research, he said, all the more important.

Sznajder hopes the research will help design new diagnostic tools and screen children with myotonic dystrophy for autism, and vice versa. He also said that clinical trials for myotonic dystrophy could be used for treatment or prevention of autism.

“It’s exactly connecting those dots,” Sznajder said. “As we understand the linkage between gene and autism, now we can think about intervention.”

It also opens questions for whether it can help with other versions of autism disorder as well.

“Can we identify the core of what has to happen for someone to develop autism spectrum disorder? Can we prevent that in the future? The research that we’ve done is opening the door to those questions,” Sznajder said.

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