Reference:
Subproject to FZT 103
Abstract:
This area of ??research focuses on genetic diseases that result in defects of synapse formation and function, which cause motor and cognitive deficits in Rett syndrome and as the associate autism.ﾠCause of Rett syndrome are encoded spontaneous mutations in X-linked MECP2 gene, the transcriptional regulator methyl-CpG binding protein 2 (MeCP2).ﾠThe resulting transcriptional changes are lethal for male patients; girls show severe motor disabilities, respiratory disorders, sudden deaths, epilepsy and cognitive disorders to the dementia.ﾠIn the last funding period, we have shown that the disease can be much earlier than previously thought, diagnose.ﾠThus, we identified enhanced glutamatergic excitation, GABAergic inhibition reduced and an attenuated BDNF-mediated synaptic modulation.ﾠThe alpha3 glycine receptor Controlled inhibition in medullary networks and the timed serotonin receptor modulation are affected, resulting in a cardiorespiratory instability due.ﾠThe diagnosis and treatment should therefore aim at the earliest possible normalization of synapse formation, a protection against epigenetic influences, therapeutic modulation of synaptic network interactions as well as protection from sudden death and protection of the slow-maturing cortical network development.ﾠA therapeutic approach in mice is aimed at the treatment of cells with an X chromosome damaged by aminoglycoside-mediated readthrough of nonsense MeCP2 mutations.
PROJECT DETAILS
beginning: 2006.
end: n.a
Country of research: Germany
Counry of funding source: Germany
Funding organization: GermanﾠResearch Foundation
Financing: NATIONAL FUNDINGS – 0 €