Cause of Rett Syndrome
RTT is caused by a spontaneous mutation on the X chromosome, affecting the MECP2 gene. The picture to the left shows the X chromosome, near the bottom you can see the MECP2 gene. That is were the mutation happens. With this mutation, many other regulatory genes are turned off and others will function abnormally. This leads to the failure of brain maturation. The MECP2 gene produces a protein called MeCP2, this protein is required for normal brain activity. The actual use of MeCP2 is unclear, but scientists believe it is used for nerve cells to communicate.