Rett Syndrome: From the Involved Gene(s) to Treatment: From the Involved Gene(s) to Treatment

Charlotte Kilstrup Nielsen, Nicoletta Landsberger

Research output: Chapter in Book/Report/Conference proceedingChapter


Rett syndrome (RTT) is a devastating genetic disorder that worldwide represents the most common genetic cause of severe intellectual disability in females. Most cases are caused by mutations in the X-linked MECP2 gene. The available molecular data suggest that MeCP2 is a key protein in brain and that its level and functions cannot be altered without severe consequences in both genders. Importantly, in 2007, new evidence indicated that RTT in principle is a reversible condition and that MeCP2-related disorders can be treated even at late stages of disease progression. However, in order to develop clinical applications, the functional role(s) of MeCP2 and their relevance for RTT pathobiology must be clearly understood. This chapter presents current knowledge of MeCP2 functions and its etiological role in disease development, the most promising therapeutic strategies and those that may be relevant in the future, and the challenges associated with treating RTT.

Original languageEnglish
Title of host publicationNeurobiology of Brain Disorders: Biological Basis of Neurological and Psychiatric Disorders
PublisherElsevier Inc.
Number of pages22
ISBN (Print)9780123982803, 9780123982704
Publication statusPublished - Dec 3 2014


  • Chromatin structure
  • Epigenetics
  • MeCP2
  • MeCP2-related disorder
  • Molecular mechanism
  • Mouse model
  • Neural plasticity disorder
  • Rett syndrome
  • Therapeutic approach
  • Transcriptional regulation

ASJC Scopus subject areas

  • Medicine(all)


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