Mutations in SHANK3 Gene Linked to Autism

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autism spectrum disorder

Medical Xpress - medical research advances and health news

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Study reveals brain mechanisms involved in genetically based autism

Summary

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88% Informative

Tel Aviv University study expands understanding of biological mechanism underlying genetically-based autism.

Mutations in the SHANK3 gene are responsible for nearly one million cases of autism worldwide.

Researchers applied a genetic treatment that improved the function of cells affected by the mutation.

The study was published in the journal Science Advances .

These findings have important implications, both clinical and scientific.

They identify the mechanism causing the damage to myelin .

This finding offers hope for developing genetic treatment for humans, which could improve the myelin production process in the brain.

Inbar Fischer: Recognizing the significance of myelin impairment in autism opens new pathways for understanding the brain mechanisms underlying autism.

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English

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