Fragile X syndrome is a hereditary genetic disease that causes various alterations, and can cause autism and varying degrees of mental retardation. At present, there is no specific fragile X syndrome treatment, and the therapies are aimed at alleviating the symptoms and improving the quality of life of the patients. However, a new study conducted in the United States by scientists at the University of New York, has discovered new ways to address this pathology.

People born with this syndrome lack the FMRP protein, whose function is key in the control of proteins, so that in their absence, protein synthesis is excessive, which has the consequence that those affected suffer from various physical and mental disorders. mental

"People who are born with fragile X syndrome lack the FMRP protein, which has as a consequence that they suffer various physical and mental disorders"

The authors of the research - whose results have been published in the journal 'Neuron'-, used laboratory mice to which they inhibited an enzyme called S6K1, which was known to be responsible for regulating protein synthesis in mice that have the syndrome , with the aim of checking if this intervention managed to reduce the symptoms associated with the disease.

The scientists observed that the mice with the syndrome but without S6K1 presented a synthesis of proteins similar to those of healthy mice. In addition, they performed various tests on these animals, which showed that the animals had improved physically and with respect to their behavior.

Eric Clan, a professor at the New York University Center for Neural Science, and director of the team of researchers, has pointed out that his finding may contribute to a new effective pharmacological approach to reduce or even reverse the conditions associated with fragile X syndrome.

My Perfect Family: Fragile X (November 2019).