Scientists map key protein interactions linked with profound autism
UC San Francisco researchers mapped over 1,800 protein interactions linked to profound autism, using Google DeepMind's AlphaFold AI to accelerate the process. Published in Science, the study shows that diverse genetic mutations converge on shared biological pathways governing early brain development. This molecular atlas provides a foundation for pharmaceutical developers to target shared pathways rather than individual genes, supported by a $46 million grant funded by Sergey Brin.
Protein interaction mapping
▪A study published in the journal Science by UC San Francisco researchers mapped more than 1,800 protein interactions from autism risk genes.
▪UC San Francisco researchers conducted the protein interaction research using frogs and brain organoids, which are lab-grown tissues that model the human brain.
▪UC San Francisco researchers introduced genetic mutations found in patients with profound autism into 100 proteins to assess how the protein interactions changed.
High-risk autism gene identification
▪Genetics researchers have identified several hundred genes and corresponding mutations that are prevalent in individuals with profound autism.
▪Individuals with profound autism often live with severe intellectual disability, require around-the-clock care, are nonverbal or minimally verbal, and frequently have epilepsy.
AlphaFold protein structure prediction
▪The AlphaFold artificial intelligence system allowed UC San Francisco researchers to predict protein interactions in an hour instead of taking years.
▪UC San Francisco researchers used the Google DeepMind artificial intelligence system AlphaFold to determine which proteins in the clumps were directly touching.
Shared biological pathways
▪The shared biological pathways identified in the UC San Francisco study include how synapses are constructed and which neurons develop and when.
▪The UC San Francisco study found that many of the mapped protein interactions converged on shared biological pathways related to early brain development.
Drug development targets
▪The mapped protein interactions could allow pharmaceutical developers to target shared protein pathways rather than creating separate therapeutic strategies for every autism gene.
▪Dr. Daniel Geschwind of UCLA stated that because most human drugs target proteins, the newly published map of protein interactions offers an entry point for pharmaceutical development.
QBI grant for autism
▪The $46 million grant awarded to the Quantitative Biosciences Institute is funded by philanthropist and Google co-founder Sergey Brin.
▪The Quantitative Biosciences Institute at UC San Francisco received a $46 million grant from the Aligning Research to Impact Autism initiative.
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