Researchers from Sickkids Hospital and Nevada University in Las Vegas have rarely established a molecular relationship between an autistic spectrum disorder (RAS) and the first type of genetic disease-myotonic dystrophy (DM1). Published in İş Magazine NATURE NERVELATION.
DM1 is an inherited disease that causes progressive muscle weakness. Scientists have found that people with DM1 were 14 times higher than the population than the development of autism. This is based on a genetic mechanism that has not been directly contacted with autism.
The researchers team found that the cause of the DM1 in the DMPK gene also disrupts the important process in the brain: the genes required for the normal functioning of proteins. Violations in this process stem from the “false assembly ın of other genes that may lead to the characteristic social and behavioral characteristics of autism of other genes of the brain.
“Our results offer a new look at the genetic mechanisms of autism, Sick said Sickkids Genetic and Genetic Biology Program Senior Researcher. Ryan Yuen. “We hope that this will help develop accurate diagnosis and therapy that can restore the normal functioning of proteins in the brain.”
Researchers paid special attention to the “toxic RNA ılan, which was created as a result of repetitions in the DMPK gene. This RNA is associated with proteins that regulate the bottle and violate its normal work, “EME” from other parts of the genome. As a result, multiple failures in the work of brain genes.
Yuen and Schneider laboratories are now investigating whether there is a jump violation similar to other genes related to autism, and how this information can be used to improve personalized treatment methods. One of the potential ways is molecules that can reduce genomic repetitions. In 2020, Christopher Parson has already discovered such a molecule in Huntington’s study.
Although the studies are still ongoing, scientists hope that their discoveries will help not only in the treatment of autism and DM1, but also to understand other genetically determined conditions.
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Source: Gazeta
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