Rett syndrome is a neurological disorder, diagnosed under the pervasive developmental disorders, affecting 1 in 10,000 girls. It is characterized by an initial period of seemingly normal post-natal development, up until 6-18 months, after which it is followed by an increasing manifestation of symptoms. These include deceleration in growth, loss of acquired motor and language skills, characteristic hand-writhing movements, muscle hypotonia, breathing problems and cognitive impairment. There is no cure or therapy to ease symptoms.

Rett syndrome is caused by mosaic expression of mutant copies of the X-linked MECP2 gene, which codes for the MeCP2 protein. MeCP2 binds to methylated DNA throughout the genome and is thought to be involved in epigenetic regulation of target gene expression. A 2007 landmark study using a mouse model of Rett syndrome suggested that inactivation of the mutant copy of MECP2 may lead to a reversal of the disorder.

Understanding how MECP2 inactivation is regulated and can be manipulated would be a major breakthrough with a major impact on the treatment of Rett. In addition, understanding how MeCP2 regulates gene expression and which target genes are most relevant for Rett syndrome will provide crucial mechanistic insight into the etiology of Rett syndrome.

In the iPS center Rett project we are investigating hIPSC derived neural cells from Rett patients and healthy controls. We specifically test for differential mechanisms of methylation and how that influences gene expression levels, and investigate differences in these levels across various stages of development.

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