080210xf's Blog

L'X fragile sera vaincu | Fragile X will be conquered

Archive for April, 2012

Studies highlight promise of fragile X treatment

Jessica Wright, 30 April 2012 |

A promising approach to treating fragile X syndrome could benefit people even after the critical window of early brain development, and alleviate core symptoms of autism, according to two studies published this month.

Fragile X syndrome is caused by the loss of a single protein, FMRP, and is characterized by intellectual disability, unusual physical features and hyperactivity. As many as 30 percent of individuals with the syndrome also have autism; however, the underlying biology of fragile X syndrome may be distinct from that of autism.

The first study, published 12 April in Neuron, provides the first published evidence that many symptoms of fragile X syndrome may be reversible after they have developed1.

Although the results were shown only in mice, they suggest that a similar effect might be seen in people with the disorder, researchers say.

“Parents of adult patients have always thought that these kinds of new treatments might be too late for them, but this gives them a lot of hope,” saysRandi Hagerman, medical director of the MIND Institute at the University of California, Davis. Hagerman was not involved in the new study, but is conducting clinical trials for fragile X therapeutics.


L’X fragile, un retard mental réparable ?

Le MONDE. fr |

Jusqu’ici, les retards mentaux étaient considérés comme irréversibles. Peut-être plus pour longtemps. En traitant par une petite molécule des souris adultes atteintes du syndrome de l’X fragile – la cause de déficience intellectuelle héritée la plus fréquente chez l’homme -, des chercheurs suisses et américains ont corrigé des signes cardinaux associés à ce trouble du développement cérébral : hyperactivité, déficit d’apprentissage et de mémorisation, sensibilité aux convulsions. Des altérations morphologiques cérébrales, tel un excès d’épines dendritiques, ont aussi régressé.