Discovery: a hormone to regulate the autistic syndromes in mouse models for Fragile-X


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B: diagram of a chromosome X. C : photography of a chromosome X of a person with a genetic disease Copyright : UMR147/Inserm

In the magazine “Science” of February 11th, 2014, a publication goes over the results of the study started in 2012 and led by the teams of Yehezkel Ben-Ari and the child-psychiatrist, Eric Lemonnier.

It is about the study of the influence of oxytocin, the hormone which triggers birth, in the regulation of the autistic Syndrome. This study is based on a simple observation. At the beginning of the contractions, the chlorine level in the child’s neurones is controlled by oxytocin by making it decrease. This allows the babies neurones to be protected during birth.

The team of scientists managed to prove on a mouse population (mouse models for Fragile-X), that sometimes present oxytocin deficiency during delivery and thus give birth to autistic mice (animal models for Fragile-X Syndrome), that the injection of a treatment that causes the concentration in chlorine to decrease in the pregnant females before the contractions begin allows to correct the regulation of the level of chlorine in the neurones during the delivery. As expected, after this treatment, the new-born mice do not develop the autistic syndrome.

This diuretic treatment is unfortunately not directly applicable to humans. Indeed, it is impossible to foretell which women will come up with an oxytocin deficiency. We therefore cannot give them a diuretic treatment to prevent this phenomenon.

However, this treatment continues to be effective once the child is born. The team of researchers has put in place a study concerning 60 children from 3 to 11. They are given either the diuretic, or the burmetanide, or a placebo. The results are best in children having being given the treatment. Indeed, intensity of autistics disorders, hypersensitivity to sensory stimuli, and isolation are reduced.

So, even though there is still a long way to go, there is a lot of hope. Because, as Eric Lemonnier, author of this study, reminds us: “It is not us who, with a small molecule, are going to cure autism. We can make sure that, from as young as possible, autistic children may communicate and live with others, and that is already a good start!”

English article from the publication: