• ICare4Autism

Scientists Identify Gene Mutation Linked to Autism and ADHD

Although autism spectrum disorder (ASD) affects millions of people worldwide, its exact causes remain unknown. In a new study, scientists at Chicago’s Northwestern University have linked autism and ADHD to a specific mutation in the gene Usp9x.

As noted in a report on the study by, individuals with mutations in the Usp9x gene grow fewer synapses in the brain. When functioning properly, the Usp9x gene is responsible for protecting a protein called akyrin-G, which grows and stabilizes synapses. These synapses help cells communicate, and play a vital role in brain development and helping children learn. Scientists have found that individuals with mutations in Usp9x have “developmental delay, difficulty learning, increased anxiety and hyperactivity.”

Peter Penzes, the lead author of the study, said in a statement that he and his colleagues have “solved an important piece of the puzzle in understanding how this mutation causes intellectual disabilities and mental illness.”

In addition to akyrin-G, Usp9x protects several other proteins that might lead to intellectual disability and autism when degraded. Less severe mutations of akyrin-G have also been connected to schizophrenia and bipolar disorder.

1 in 59 children lives with autism in the United States, according to the Centers for Disease Control (CDC), and the diagnosis rate is growing. It is unclear whether this increase is due to a broadening definition of autism, improved diagnostic efforts, or a genuine increase in autism. The CDC believes all three factors may be responsible.



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