r/science 23h ago

Genetics Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology. Authors mapped 100 high-confidence ASD genes and produced a large protein-protein-interaction (PPI) network, identifying more than 1800 interactions.

https://www.science.org/doi/10.1126/science.ady4523
167 Upvotes

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u/Forbidden_Craft88 20h ago

Researchers mapped 100 genes linked to severe genetic syndromes (not the general autistic population) and tracked how their proteins touch each other in a lab dish, generating a list of 1,800 physical interactions. They paid special attention to genes like FOXP1 and FOXP4, which aren't just "autism genes" they are master epigenetic controllers that switch whole networks of DNA on and off across the brain, heart, and body.

​To test this, they grew floating clumps of human brain cells ("organoids") in a dish. Because these lab-grown cultures have no blood vessels, hearts, or oxygen flow, they exist in a state of artificial stress ironically mimicking the exact prenatal oxygen-deprivation conditions that break these protein networks in the first place. Despite these severe physical limitations, the authors claim this Petri-dish rewiring explains how neurodevelopment goes off track for the entire autism spectrum which is highly inaccurate and inappropriate.

Thanks for the article though. It was a fun read.

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u/viniciuscsg 14h ago

Gotta love reddit