Autism spectrum disorder (ASD) affects about 1 in 59 children and is diagnosed in boys roughly four times more often than in girls.
While scientists have identified certain risk factors, the exact biological causes remain a mystery. Now, groundbreaking research from Northwestern University offers a possible clue.
The study reveals how specific genetic changes may disrupt the brain’s ability to form synapses—the tiny connections that allow nerve cells to communicate—during early development.
Healthy synapse formation is crucial for learning, memory, and overall brain function. When fewer synapses form, communication between brain cells weakens, potentially contributing to developmental conditions like autism.
Previous studies had linked the ANK3 gene, which produces the protein ankyrin-G, to autism, intellectual disabilities, schizophrenia, and bipolar disorder. Until now, however, scientists didn’t fully understand how ankyrin-G was involved in autism.
This new research found that ankyrin-G is essential for the growth of dendritic spines—tiny projections at the ends of nerve cell branches that host synapses. Without enough dendritic spines, fewer synapses develop, impairing the brain’s communication network.
For ankyrin-G to do its job, it relies on another protein called Usp9X. Acting as a stabilizing enzyme, Usp9X keeps ankyrin-G levels steady so dendritic spines can grow and synapses can form.
The team discovered that if Usp9X doesn’t function properly, ankyrin-G levels drop dramatically—especially during the critical period just after birth when the brain is rapidly building new connections. This shortage results in fewer synapses and weaker communication between brain cells.
In experiments with mice, those with reduced ankyrin-G had noticeably fewer synapses. They also showed lasting difficulties in learning, brain function, and social behaviors—paralleling some of the challenges faced by people with autism.
The findings suggest that mutations in the Usp9X gene could disrupt brain development in a way that contributes to autism. By interfering with the formation of synapses, these genetic changes may explain some of the learning and social difficulties seen in ASD.
Published in Neuron and led by neuroscientist Peter Penzes, the study provides new insight into autism’s biological roots. Understanding how Usp9X and ankyrin-G influence brain development could one day help doctors identify at-risk children earlier and develop targeted therapies.
While much more research is needed, future treatments might aim to stabilize ankyrin-G or boost synapse formation—potentially improving learning and communication outcomes for individuals on the autism spectrum.
This discovery underscores the importance of studying the brain’s genetic and molecular building blocks. As scientists learn more about how autism develops, they move closer to designing therapies that address its underlying causes—offering hope for better support and quality of life for those affected.
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