Research initiated by UNLV uncovers innovative route...
UNLV Study Reveals New Route to Autism, Potentially Clearing Path for Intervention
Katie Futterman, Las Vegas Review-Journal
With a genetic mutation at its core, a recently uncovered molecular pathway could lead to the development of autism. This revelation, spearheaded by UNLV, offers a promising avenue for future intervention.
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Los Vegas - A groundbreaking UNLV-led study has pinpointed a new route causing autism, potentially paving the way for novel approaches to intervention in the future.
The discovery revolves around a genetic mutation connected to myotonic dystrophy, a neuromuscular disease. The study demonstrated that a myotonic dystrophy-related gene can alter the expression of several autism-associated genes during brain development, contributing to autism spectrum disorder (ASD). This process involves an RNA-mediated gain of function that impacts the correct splicing of several ASD risk genes [1][2].
In essence, this uncovers a fresh model for understanding and tackling ASD, as it emphasizes a specific molecular link between myotonic dystrophy and autism.
Key findings of the study include:
- Genetic Mutation: The researchers identified a genetic mutation in a myotonic dystrophy-linked gene that disrupts autism-related genes.
- RNA-Mediated Pathway: This mutation activates an RNA-mediated pathway that alters the regular splicing of genes crucial for brain development.
- Tandem Repeat Expansion (TREs): The RNA pathway involves the expansion of tandem repeats (TREs), which can bind essential proteins, leading to abnormal splicing in genes vital for brain development [1][2][5].
This new research paves the way for potential therapeutic interventions aimed at correcting the mis-spliced events in ASD-risk genes [5].
Sources:
[1] https://www.nature.com/articles/s41593-022-01294-7[2] https://www.sciencedaily.com/releases/2022/03/220317143538.htm[5] https://www.unlv.edu/news/unlv-led-study-discovers-new-molecular-pathway-leading-to-autism
- The UNLV-led study reveals a new molecular pathway caused by a genetic mutation linked to myotonic dystrophy, potentially opening up avenues for addressing autism spectrum disorder (ASD) through interventions.
- This groundbreaking research highlights the role of RNA-mediated gain of function in altering the splicing of autism-risk genes, which could be a promising target for therapies aimed at correcting such events in the future.
