As the most comprehensive worldwide organization dedicated to Rett syndrome, the International Rett Syndrome Foundation proudly continues fulfilling its core mission to fund research for treatments and a cure for Rett syndrome while enhancing the overall quality of life for those living with Rett syndrome by providing information, programs and services. Rett syndrome (RTT) is a neuro-developmental disorder that occurs mostly in females. Itís usually caused by a mutation of the MECP2 gene on the x chromosome. Rett syndrome is found in all racial and ethnic groups throughout the world, and in every socioeconomic class. RTT affects 1 in 10,000-15,000 live female births. Early developmental milestones appear normal; between 6-18 months of age, there is a regression, affecting speech, hand skills and coordination. A hallmark of RTT is repetitive hand movements that may become almost constant while awake. Other features may include seizures, irregular breathing, difficulties swallowing and curvature of the spine. Many individuals with Rett syndrome live well into adulthood. In October of 1999, the discovery of genetic mutations in the gene MECP2 on the X chromosome (Xq28) revealed significant insight into the cause of Rett syndrome. This gene encodes an abundant chromosomal protein (MeCP2), which acts as a transcriptional repressor by binding to methylated CpG base pairs throughout the genome and silencing other genes. Rett syndrome is thought to arise in great part due to abnormal over-expression of genes improperly regulated by a defective MeCP2. This is the first instance of a human disease caused by defects in a protein whose function is to silence other genes. There is currently no cure. Continued research is now focused on still unidentified genetic factors which may contribute to Rett syndrome. Numerous target genes have been identified that are regulated by the MeCP2 protein. Genetic studies have begun to identify additional causative genes such as CDKL5 and FOXG1. Valuable animal models have been developed that effectively reproduce the disease and demonstrate the potential reversibility of the disease. Neurobiological studies have enabled us to determine some of the neurological underpinnings of Rett Syndrome pathogenesis.
IRSF maintains and distributes The Rett Gazette Newsletter twice a year for health professionals and families.
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