2023-10-08 19:40:00
Groundbreaking Study at Stanford University Finds New Insights into Autism Gene Imbalances
Researchers at Stanford University have made a significant breakthrough in understanding the genetic underpinnings of autism. Using advanced laboratory techniques, the team discovered that the absence of specific genes causes an imbalance in the brain’s development, potentially leading to autism spectrum disorders.
The findings, published in the trade magazine Nature, result from ten years of meticulous research. The study could pave the way for the development of innovative treatments that promote undisturbed brain development during critical stages.
The research focuses on a long-standing theory that disruptions in the delicate equilibrium between two types of nerve cells in the cerebral cortex may be a leading cause of autism. Some nerve cells excite others, while other cells called interneurons inhibit their activity. Imbalance in this process can affect concentration and potentially lead to epilepsy, a disorder more prevalent among individuals with autism.
To investigate this theory, the team examined 425 genes associated with neurodevelopmental disorders. They discovered that certain genes had a direct impact on the formation and migration of interneurons, including genes linked to autism.
Dr. Sergiu Pasca, the lead researcher and a professor of psychiatry and behavioral sciences at Stanford University, explains that interneurons start developing deep in the brain and migrate to the cerebral cortex during gestation. By closely studying the genetic profiles of these cells, his team identified 13 genes that prevent the formation of interneurons and an additional 33 genes that impede their migration.
The research team also found that one of the genes crucial for interneuron migration, LNPK, was associated with seizure disorders. This supports the hypothesis that seizures in individuals with autism are a result of excessive excitation of neurons and insufficient inhibition.
By using a novel technique developed by the team, the researchers were able to study all 425 genes simultaneously. They created cell clumps that imitate the structure and functionality of the brain’s subpallium and cerebral cortex. These clumps were placed next to each other, resulting in fusion and migration similar to that observed in human brains.
The groundbreaking study has opened up new avenues for understanding the genetic basis of autism spectrum disorders. While autism is not a single disease, the findings provide invaluable insights into the intricate processes of brain development. With further research, scientists hope to develop personalized treatments based on an individual’s genetic profile.
However, experts caution that genes alone cannot explain autism. Microglia defects and other factors also play a role. Researchers emphasize the need for a holistic approach to autism research, addressing not only genetic factors but also lifelong issues faced by individuals with autism and their families.
Dr. Pasca stressed the importance of understanding the biological basis of autism in developing effective treatments. While more work is needed, this groundbreaking study marks a significant step forward in unraveling the mysteries of autism and presents new opportunities for improved interventions and support for those affected by the disorder.]
#Dozens #genes #contribute #autism