The article states that researchers bred special mice with a mutation in the MEF2C gene, which they say is “strongly linked” to the disorder. Mutations in this gene cause developmental disorders, speech problems, repetitive behavior, and epilepsy, reports rbc.ru
The gene-editing system developed for MEF2C was named AeCBE. According to the study’s authors, mice given the special injection showed a reduction in ASD-related behavior. The researchers emphasized that this potential treatment method could be used not only for ASD patients, but also for other genetic neurodevelopmental disorders.
A professor at East China Normal University told SCMP that this is the first effective treatment for mice with ASD-linked mutations. According to him, the injection had to reach the mouse’s brain directly, so the researchers needed to learn how to safely work with the blood-brain barrier — a group of cells that regulates the entry of foreign molecules into the brain.
As SCMP reports, in studying the mice’s brain cells, the researchers found that AeCBE was able to “make repairs” throughout the brain with roughly 20% precision — enough to raise MEF2C protein levels. “The treatment successfully restored MEF2C protein levels in several areas of the brain and reversed behavioral abnormalities in mice with the MEF2C mutation,” the article states. The exact cause of ASD is still unknown, but 80–90% of cases are believed to stem from genetic predisposition.
More than 100 genes have already been linked by scientists to the development of autism. But environmental factors can also contribute to a child developing this disorder. For example, inflammation in the mother’s body during pregnancy has been linked to an increased risk of ASD in the child.
Such inflammation can be caused by chronic conditions like arthritis, lupus, or diabetes, or triggered by obesity through cytokines that cross the blood-brain barrier and attack neural networks. Some people diagnosed with ASD in childhood outgrow it, reaching what’s called an “optimal outcome.” The term was coined by Deborah Fein, a professor of psychology at the University of Connecticut in Storrs.
In 2013, she conducted a study involving 34 people diagnosed with autism. In 2016, researchers examined cases of “optimal outcomes” and concluded that losing the diagnosis is only possible when it was made early on. Timely, intensive behavioral intervention plays an equally important role. Most people with autism retain symptoms characteristic of the diagnosis and need therapy and support throughout their lives.
