Think of the brain as an incredibly complex electrical network: when mutations in a gene called SHANK3 they hit, they damage not only the “devices” (the neurons) but also the “cables” that connect them. A team of researchers from Tel Aviv University has just discovered this hidden mechanism of theautism, revealing how the disorder compromises not only communication between neurons, but also the cells that produce the insulation needed for brain signals. A discovery that could change everything.
Research that changes our understanding of autism
According to the latest data, theautism It affects 1-2% of the world's population, with one diagnosis in every 36 children in the United States. In Italy, one in every 77 in the 7-9 age group.
Professor Boaz Barak of Sagol School of Neuroscience and School of Psychological Sciences ofTel Aviv University led a groundbreaking study that is changing our understanding of this disorder.
The research, published in the prestigious journal Science Advances (I link it to you here), also involved Professor Ben Maoz and the professor Shani SternThe team focused on the SHANK3 gene, whose mutations are responsible for nearly a million cases of autism in the world.
I symptoms of autism can vary greatly from person to person, and this research helps to better understand why, especially in cases of high functioning autism.
The crucial role of oligodendrocytes
The study revealed that mutations in the SHANK3 gene affect not only neurons, as previously thought, but also cells called oligodendrocytes. These cells produce myelin, a fatty layer that insulates nerve fibers, much like the coating on electrical wires.
The doctoral student Inbar Fisher explains that when myelin is defective, electrical signals can “leak,” impairing communication between different areas of the brain. This damage is twofold: the defective protein disrupts both communication with oligodendrocytes and their ability to produce myelin.
The team observed a deterioration of myelin in several areas of the brain, with consequent effects on behavior.
Gene therapy shows promising results
The researchers didn't stop at identifying the problem. Using a genetically modified mouse model, they developed an innovative genetic treatment. They inserted segments of DNA containing the normal sequence of the SHANK3 gene into damaged oligodendrocytes.
The result was surprising: the cells began to produce the normal protein, restoring their ability to communicate and produce myelin. To validate these findings, the team also used stem cells derived from a girl with autism caused by the same mutation.
Future implications for understanding and approaching autism
Professor Barak emphasizes that this discovery has important scientific and clinical implications. From a scientific point of view, we now have a deeper understanding of the role of myelin inautism and the mechanism that causes its damage.
On the clinical front, the validation of the gene therapy approach opens up new treatment possibilities. This research could lead to the development of targeted therapies not only for cases linked to the SHANK3 gene, but potentially for a wider range of autism spectrum conditions.
The discovery also highlights how oligodendrocytes play essential independent roles, well beyond simply supporting neurons. We will be following the developments of this research: it could revolutionize the approach to treating autism in the coming years.
