What are the causes of Retts syndrome?
Rett syndrome is caused by mutations in the MECP2 gene, which is found on the X chromosome. Scientists identified the gene – which is believed to control the functions of several other genes – in 1999. The MECP2 gene contains instructions for the synthesis of a protein called methyl cytosine binding protein 2 (MeCP2), which acts as one of the many biochemical switches that tell other genes when to turn off and stop producing their own unique proteins. Because the MECP2 gene does not function properly in those with Rett syndrome, insufficient amounts or structurally abnormal forms of the protein are formed. The absence or malfunction of the protein is thought to cause other genes to be abnormally expressed, but this hypothesis has not yet been confirmed. Although Rett syndrome is a genetic disorder – resulting from a faulty gene or genes – less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are sporadic, which means the mutation occu
