Rett syndrome It was described as such in 1966 by the Austrian doctor Andreas Rett, the disease is caused by mutations in a gene, the MECP2. This pathology usually occurs in girls and usually appears between 6 and 18 months of age.
This genetic-based neurological disorder that affects one in 10,000-15,000 girls shows devastating symptoms, including autism spectrum disorders. Despite being born and grown properly during the first months, at some point between the sixth and eighteenth month of life, their development begins to recede and the losses are increasing, they do not speak, they do not control their feet to walk, they are not able to use their hands, their spine curves, can not sit, has seizures, respiratory problems ...
Considered as a rare disease, it was thought to be irreversible, but in a recent investigation by the University of Edinburgh (Scotland), the disorder has been reversed in mice, lor that increases hopes of being able to cure pepeople. Dr. Adrian Bird's team modified the gene affected by the disease in rodents who suffered the equivalent of Rett syndrome. Although they did not have much hope, they managed to make the functional gene for four weeks, which eradicated the tremors in the mice, they breathed well and walked normally, even those who were about to die.
They also reactivated the gene in mice that had not yet shown the symptoms of the disease, and failed to develop them.
The researchers are very happy with the results, Bird says that therapy to cure humans is getting closer, Rett syndrome is not irreversible.
The study, which has received congratulations from colleagues, has been published in the journal Science.
Via | Medline Plus More information | Science More information | NICHD
