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Studies identify genetic mutations associated with autism and provide hope for effective treatments

 


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In recent years, substantial studies have been provided showing the effects of genetic mutations on the development of autism and other neurodevelopmental disorders. Based on those studies, researchers focused on the commonalities behind those mutations and how they affect brain function. Autism-related genes are involved in the regulation of other genes and tend to function preferentially in three areas, according to a study conducted by Professor Sagiv Shifman of the Hebrew University of Jerusalem Life Sciences Institute and the Center for Autism Research I found that there is. Brain; cortex, striatum, and cerebellum.

The cerebellum is responsible And recent findings have shown that it also contributes to the development of many social and cognitive functions.Based on these findings, the research team hopes this will lead to a better understanding of the relationship between the cerebellum and the cerebellum. And in the future it will even lead to new treatments.

Research published in Nature Communications Tested one of the most prominent Autism is associated with Pogz. Professor Schiffman selected this particular gene based on previous findings associated with developmental disorders and overly friendly behavior in some patients in the autism spectrum. The research team worked with Professor Yosef Yarom of the Edmond & Lily Safra Brain Science Center at the University of Hebrew and other laboratories around the world to investigate how mutations in the Pogz gene affect. Mice development, especially regarding cerebellar function.

The findings conclude that mutations lead to hypersocial behavior, learning disabilities, and at the same time affect the physical development of mice. Upon further investigation, the team also observed that gene mutations affect the proliferation of cells in the brain and inhibit the production of new neurons. Researchers believe this may be the reason why some children with mutations exhibit smaller than average head sizes.

Currently, there are no effective drugs for the main symptoms of autism, but Professor Yarom believes that this study may help develop drugs that directly alter the neural processes of the cerebellum.In a previous study conducted by Professor Yarom, certain chemicals were found. .. Therefore, ongoing research will focus on whether similar approaches can alter the behavior of laboratory mice and reverse the effects associated with mutations.

“Studies using this particular gene we know are related to autism and have a significant impact on brain function. We can develop drugs to help children with autism. It gives us great hope, “said Professor Shifman. “A better understanding of the neurological processes behind autism opens up hopeful possibilities for new treatments,” added Professor Yarom.


Autism: How Genetic Changes Change Social Behavior


For more information:
Reut Suliman-Lavie et al. Pogz deficiency causes transcriptional dysregulation and cerebellar dysfunction that underlie behaviors such as autism in mice. Nature Communications (2020). DOI: 10.1038 / s41467-020-19577-0

Quote: The study identified genetic mutations associated with autism and was obtained from https://medicalxpress.com/news/2021-01-genetic-mutation-autism-effective-therapeutics.html on January 11, 2021. Provides hope for an effective treatment (January 11, 2021)

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