Northwestern Medicine scientists have made a groundbreaking discovery in the field of neurodevelopmental disorders. They have discovered the cause of a genetic subtype of autism that results in seizures and social deficits in both mice and humans.
Social deficits refer to difficulties or impairments that an individual may experience in social interactions and communication. It is a common characteristic of attention deficit hyperactivity disorder (ADHD). These deficits can occur in a variety of contexts, from personal relationships to professional settings. Individuals with social deficits may struggle with a range of social skills, including:
- Understanding nonverbal cues such as facial expressions, tone of voice, and body language
- Expressing themselves effectively in social situations
- Understanding the perspective of others
- Establishing and maintaining friendships
- Understanding and following social rules and norms
According to researchers, the genetic subtype is known as 16p11.2 duplication syndrome, and a key feature of this subtype is a duplicated gene that results in overexcited brain circuits. Lead author Marc Forrest, a research assistant professor of neuroscience at Northwestern University Feinberg School of Medicine, said,
“We found that mice with the same genetic changes found in humans are more likely to have seizures and also have social deficits.”
The study, recently published in Nature Communications, was conducted in the laboratory of Peter Penzes, director of the Center for Autism and Neurodevelopment. Penzes and his team found that reducing the levels of a gene called PRRT2 in the duplicated region restored normal brain activity in mice, normal social behavior, and decreased seizures. Forrest said,
“Our data, therefore, demonstrates that brain over-activation could be causing both seizures and social deficits in this syndrome, and that too much PRRT2 is responsible for this.”
Neurodevelopmental disorders such as intellectual disability, autism, and schizophrenia are common and affect approximately 3%, or about 10 million people in the U.S. alone. The 16p11.2 duplication syndrome affects about 0.3% of these individuals, around 30,000 people in the U.S.
The identification of the cause of 16p11.2 duplication syndrome is a significant breakthrough because it could lead to novel therapies that could potentially cure core symptoms of this syndrome. Since the gene PRRT2 regulates how neurons talk to each other, inhibiting the connection points between neurons could help treat both seizures and autism symptoms in this syndrome.
This discovery could lead to better treatments for autism and schizophrenia in general, which would be life-changing for millions of people worldwide. By understanding the genetic basis of these disorders, scientists can focus their efforts on developing therapies that target the underlying causes of these disorders, rather than just treating the symptoms.
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Primary child students pupils in group work in a small village school via Wikimedia Commons by Masae with usage type - Public Domain. December 9, 2007Featured Image Credit
Primary child students pupils in group work in a small village school via Wikimedia Commons by Masae with usage type - Public Domain. December 9, 2007
