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A study conducted in Germany on mice came to an astonishing result. A drug already known was able to act on a gene generally deactivated in autistic subjects, and thus reduce the symptoms associated with the disease. A medicinal way to deepen.
Genetic mutation paves way for possible treatment
Autism spectrum disorders (ASD) affect 700,000 people in France. ASDs are manifested by disorders in social interaction, communication, stereotyped behaviors and monothematic centers of interest. They may be accompanied by more significant abnormalities such as epilepsy or hyperactivity.
At the origin of these disorders, multiple genetic factors are suspected, including the gene that codes for the MYT1L protein. Researchers from a German brain research institute worked specifically on this gene. Mutations of this gene have been found in several neurological diseases, such as schizophrenia, epilepsy or cerebral malformations.
By acting on this pathway with a drug initially dedicated to epilepsy, the researchers succeeded in distinctly curbing the symptoms, in particular social ones.
Drug for just $3 eases symptoms
The researchers therefore deactivated MYT1L in mice and on human nerve cells cultured in the laboratory.
- Without MYTL1, nerve cells overproduce sodium channels normally restricted to heart cells. These proteins are crucial for electrical conductivity and therefore the functioning of cells. But produced in excess, they could be the cause of electrophysiological hyperactivation.
- Without MYT1L, the mice showed brain abnormalities such as a thinner cerebral cortex but also behavior interpreted as autistic, including social deficits and hyperactivity. But administration of lamotrigine, known as Lamictal, was able to curb the behavioral and social problems associated with the disorder.
Why this choice ? When used to treat epilepsy, lamotrigine works by blocking sodium channels in the body, preventing the release of neurotransmitters that would otherwise cause seizures. In the case that interests us, these drugs would make it possible to restore the electrophysiological activity of the nerve cells to normal.
According to the authors, the drug, which costs about $3 per pill, would therefore work by reversing changes in brain cells caused by a genetic mutation.
An encouraging result, but what next?
Dr. Moritz Mall, author of the study, himself seems surprised by this progress. “Apparently, drug treatment in adulthood can alleviate brain cell dysfunction and thus counteract the behavioral abnormalities typical of autism”. However, he recalls that these findings have only been observed on an animal model for the time being.
“However, results are still limited to mouse studies, clinical studies in patients with ASD spectrum disorders have not yet been conducted. The first clinical studies are in the early planning phase.”
A trouble still surrounded by mysteries
Research is progressing, but it will probably still be necessary to carry out many trials to be sure of the effects of a treatment, whatever it may be. So scientists are still not completely sure what causes autism, although they understand it is likely to be a combination of genetic and environmental factors. The severity of the disorder also varies widely across the spectrum, meaning there probably isn’t a miracle treatment option. However, efforts are continuing, particularly in early detection, which would allow psychosocial care as soon as possible.