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This image shows a section of an organoid. Organoids are lab-grown tissues that model the human brain. A new study used brain organoids to probe key protein interactions linked to profound autism.
Scientists have now gotten closer to understanding how gene mutations may lead some people to develop profound autism. The clues lie in the interactions between proteins derived from autism risk genes. A team from UC San Francisco mapped over a thousand protein interactions from these genes, creating a molecular atlas published in *Science*.
This resource could help identify new treatments. Dr. Daniel Geschwind, UCLA professor, called it an 'unprecedented resource' for autism research and drug development.
Alison Singer, president of the Autism Science Foundation, expressed hope for future drug therapies for families affected by profound autism. The study builds on recent progress identifying high-risk genes linked to profound autism. Researchers faced a challenge: understanding how gene mutations translate into protein dysfunctions.
Dr. Nevan Krogan and Dr. Matthew State collaborated to use AI-driven technology like AlphaFold to map protein interactions.
They found that many mutations converge on shared biological pathways, particularly in early brain development. This convergence suggests potential targets for treatments. The findings, though foundational, highlight the need for years of research to translate into clinical therapies.
The study underscores the importance of protein interactions in neurodevelopmental disorders and opens avenues for targeted drug development.
Source: NPR
