A study conducted by UNLV identified a new molecular pathway connecting myotonic dystrophy with autism spectrum disorders. Professor Lukasz Sznajder and his team found that mutations in the DMPK gene, associated with myotonic dystrophy, also disrupt the splicing of autism-related genes. This disruption can lead to both autism and muscle-related symptoms, revealing a potential avenue for diagnoses and treatments. While it does not encompass all autism cases, this discovery highlights a significant genetic overlap, emphasizing the necessity for further research into these connections and their clinical implications.
This is a landmark example of an RNA-mediated pathway to autism... it exposes one route among the many that lead to the spectrum.
Researchers say the study can help with new diagnoses, prevention and treatment of autism.
A UNLV-led study has discovered a new molecular path that leads to autism, potentially opening the way for more intervention in the future.
Sznajder had long noticed a high crossover between people suffering from myotonic dystrophy and autism.
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