Experts Pinpoint Biological Cause Of Autism, Paving Way For Targeted Drug Therapies

Scientists at Kobe University in Japan have found a common biological mechanism behind autism, offering hope for targeted drug therapies. The team discovered that many autism-linked genetic mutations interfere with the brain’s natural “maintenance” system, which removes damaged materials from neurons. When this system fails, waste builds up, disrupting how brain cells send signals. “A lack of quality control of these proteins may be a causal factor of neuronal defects,” the study notes.

To study this, researchers created 63 genetically modified mouse stem cell lines, each containing a high-risk autism gene variant. Using CRISPR, they simulated “autism in a dish,” growing brain tissue and even mice with these mutations. They found that neurons with faulty cleanup systems couldn’t properly function, which may explain challenges with learning, communication, and social interaction in autistic individuals.

The study, published in *Cell Genomics*, also suggests these mutations are shared across other mental illnesses like schizophrenia and bipolar disorder. “The genetic variants we studied are also implicated in other neuropsychiatric disorders,” the authors write.

Though therapies are likely years away, the findings mark a shift from identifying risk genes to understanding how they disrupt brain function. As researchers aim for personalized treatments, this breakthrough may guide future autism and mental health therapies.

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