Assist Prof Sznajder was curious about why there appeared to be such a high crossover between people suffering from myotonic dystrophy and autism, causing him to delve into the genetics of the two conditions. — TNS
A study done in the United States has discovered a new molecular path that leads to autism, potentially opening the way for more intervention in the future.
The study led by University of Nevada, Las Vegas, (UNLV) chemistry and biochemistry assistant professor Dr Łukasz Sznajder was published on April 21 (2025) 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,” said Columbia University clinical psychiatry assistant professor Dr Ryan Sultan.
A genetic link
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, Assist Prof Sznajder said.
Different studies have shown a “laundry list” of genes that may contribute to autism.
Around 95% of children with autism have at least one extra condition, he pointed out.
As a geneticist, he 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?”
Partnering with researchers at the University of Florida in the US, as well as in Poland and Canada, 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 (ribonucleic acids) 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,” University of Texas at Austin assistant professor of neurology and paediatrics Dr Audrey Brumback said.
She added that 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.
Assist Prof Sultan said: “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.”
‘Connecting the dots’
Assist Prof Sznajder hopes that 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,” he 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,” Assist Prof Sznajder said. – By Katie Futterman/Las Vegas Review-Journal/Tribune News Service
