Pharmacological interference with the glucocorticoid system influences symptoms and lifespan in a mouse model of Rett syndrome.

Summary, in English

Rett syndrome (RTT) is caused by loss-of-function mutations in the X-linked gene MECP2 coding for methyl CpG-binding protein 2 (MeCP2). This protein can act as transcriptional repressor and we showed in a previous study that glucocorticoid-inducible genes are up-regulated in a RTT mouse model and that these genes are direct MeCP2 targets. Here, we report that pharmacological intervention with the glucocorticoid system has an impact on the symptoms and lifespan in a RTT mouse model. Our data support a functional implication of the stress hormone system in RTT and suggest this hormone system as potential therapeutic target.

• Författare: Sebastian Braun; Denise Kottwitz; Ulrike Nuber
• Avdelning/ar: Stamcellscentrum (SCC); StemTherapy: National Initiative on Stem Cells for Regenerative Therapy
• Publiceringsår: 2012
• Språk: Engelska
• Sidor: 1673-1680
• Publikation/Tidskrift/Serie: Human Molecular Genetics
• Volym: 21
• Issue: 8
• Länkar: http://www.ncbi.nlm.nih.gov/pubmed/22186023?dopt=Abstract; http://dx.doi.org/10.1093/hmg/ddr602
• Dokumenttyp: Artikel i tidskrift
• Förlag: Oxford University Press
• Ämne: Medical Genetics
• Status: Published
• ISBN/ISSN/Övrigt: ISSN: 0964-6906