Reference:
Abstract:
Rett syndrome is a leading cause of mental retardation in girls and is caused by mutations in the MECP2 gene.ﾠIn addition, changes in the MECP2 gene isolated in patients with non-specific mental retardation, autism, and severe neonatal encephalopathy are detectable.ﾠThe function of the MECP2 protein, its role in methylation and its interactions with other proteins and histone methyl-CpGbindenden have been explored only partially.ﾠIn particular, important for clinical medical applications causal relationships between the genetic defect, the histopathological changes in the central nervous system and neurological disease in patients with Rett syndrome, including respiratory disorders regularly occur are largely unknown.ﾠThe aim of this research project is to characterize the MECP2 gene and another responsible for Rett syndrome gene in cell and animal models as well as to determine their role in the development and worsening of Rett syndrome and other Retardierungssyndrome.ﾠNew therapeutic concepts such as the administration of aminoglycosides for the correction of nonsense mutations are in the cell model and are then checked in the existing and well-established animal models.
PROJECT DETAILS
beginning: 2004.
end: n.a
Country of research: Germany
Counry of funding source: Germany
Funding organization: GermanﾠResearch Foundation
Financing: NATIONAL FUNDINGS – 0 €