FRIDAY, Feb. 9 (HealthDay News) -- Symptoms of Rett syndrome can be reversed in mice by restoring the defective gene MeCP2, which is responsible for the severe autism spectrum disorder, according to a report published Feb. 8 in the advance online edition of Science. The findings suggest that patients could one day benefit from therapy for the disease.
Adrian Bird, Ph.D., of the University of Edinburgh, Scotland, and colleagues used transgenic mice that have the MeCP2 gene conditionally silenced, but which can be reactivated under the control of its own promoter by the addition of tamoxifen.
The authors showed that reactivation of MeCP2 prevented the development of Rett syndrome-like neurological defects in young mice, and could reverse the symptoms in older mice that already acquired the disease. After 18 to 26 weeks of tamoxifen treatment, long-term potentiation tests of affected mice were comparable to control mice.
"Our study shows that Rett syndrome-like neurological defects due to absence of the mouse MeCP2 gene can be rectified by delayed restoration of that gene," the authors write. "The experiments do not suggest an immediate therapeutic approach to Rett syndrome, but they establish the principle of reversibility in a mouse model and therefore raise the possibility that neurological defects seen in this and related human disorders are not irrevocable."
Abstract
Full Text (subscription or payment may be required)
