One more step in the cure of Fragile X Syndrome

It is not a well-known disease but there are also few cases of babies suffering from Fragile X Syndrome, a disorder that causes a mental retardation caused by a genetic disorder of the X chromosome. It is the second cause of genetic mental disability found by behind Down syndrome.

This hereditary form of mental retardation has been studied by a group of scientists headed by the Emory University School of Medicine (USA), managing to understand a little more its operation. Experts have discovered the genetic mutation responsible for brain cells not being able to communicate correctly. But what is most interesting and an important advance is the existing possibility of reversing the effects of genetic mutation. The scientists achieved this action partially in the rats subject to the study, which presented said mutation in their neurons thanks to a specific substance directed towards the genetic defect present in them.

More studies will be necessary but a spectacular advance has been achieved that will allow in the future to correct the deficiencies caused by Fragile X Syndrome in the neural cells of babies and thus ensure that children grow up with the same capacity as healthy children do.

The study has been published in the scientific journal Procedings of the National Academy of Sciences.

Video: Advances in Targeted Treatments in Fragile X Syndrome and Autism (April 2024).