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Scientists at Sickkkids and Las Vegas University (UNLV), Nevada, have found a genetic association between autism spectrum disorders (ASD) and muscular nutrient type 1 (DM1).
research, Post ~ Natural neuroscienceASD suggests that it could lead to social behavior often observed by individuals with ASDs, but previously specialized by the loss of genetic function.
The DM1 is inherited and causes progressive muscle loss and weakness. ASDs are about 1%of the general population, but 14 times higher for people with DM1.
This study found that genetic variations that cause DM1 (TRES) in the DMPK genes affect brain development. The team found that the effect of TRE interferes with the important process of genetic spraying, which is essential for genetic functions.
The collapse can cause protein imbalances, which can misdright multiple genes related to brain function, and explain why some of the ASD’s social and behavioral results occur in people with DM1.
Dr. Ryan Yuen, a senior scientist of genetic and genome biology programs in Sickkids, said, “Our findings indicate a new way to characterize the genetic development of autism.
“By identifying the molecular path behind this connection, we can investigate the development of a new approach to ASD diagnosis and the development of precision therapy that reinvigorates these proteins into genomes.”
What is TRE?
TR occurs when the section of the DNA strands is repeated more than two times, and the possibility of these repetitions increases the possibility of an error in genetic functions.
In 2020, Yuen found this TRE is a genetic contribution to autism.For those with ASDs, TRE is much more widespread to identify more than 2,588 different places. Similarly, people with DM1 have a TRE in the DMPK gene.
Dr. Wukasz Sznajder, head of UNLV’s researcher and assistant professor, said, “The variations found in rare neuromuscular disease were actually noticeable.” This is the way we started connecting dots. We found molecular links or overlaps. I think this is the core of autism symptoms for children with nutrition. “
Major contributors in ASD development
With the expansion of the DMPK genes, the team, including the collaborators of the University of Florida, and the Adam Mickey Dicks University (Poland), were found to have a modified RNA in protein involved in gene spraying control during brain development.
This so -called “toxic RNA” depletes other genes incorrectly by depleting proteins and preventing them from binding to other RNA molecules in an important region of the genome.
“Tre is like a sponge that absorbs all these important proteins in the genome, and without this protein, the other areas of the genome do not work properly.
The Yuen Lab and SZNAJDER LAB are already exploring whether this wrong replication occurs in other genes associated with ASDs and how their discovery can know how their protein releases these proteins into genome.
Some of this work is already ongoing. In 2020, Dr. Christopher Pearson, a senior scientist of genetic and genetic biology programs in Sickkids, confirmed the molecules that can contract TR in Huntington’s disease.
More research is needed to identify how this can be applied to other conditions, but the team remains optimistic. Their research results can provide information on future research and DM1, ASD and other conditions.
Additional information:
łukasz J. SZNAJDER et al, myotonic dystrophy type 1 model-related characteristics of autism related to MBNL isolation and autism risk genes are due to RNA non-oh-oh. Natural neuroscience (2025). Two: 10.1038/S41593-025-01943-0
recallThe study shows a new genetic mechanism of autism (2025, April 21) confirmed on April 22, 2025.
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