Rett Sydrome Essay

Submitted By alyjames32
Words: 656
Pages: 3

Rett syndrome is a disorder that almost exclusively affects females and is characterized by a person developing abnormally early then being slow in development, as they grow older. Certain signs showed by a child with Rett syndrome are loss of purposeful use of their hands, slowed brain and head growth, problems with walking, seizures, and the child will show intellectual disabilities. Other physical symptoms of Rett syndrome are loss of speech, balance and problems coordination. In many cases the ability to walk is lost. Many symptoms of Rett syndrome develop within the first three months to three years of a their lives. Breathing problems develop for children with the disorder including hyperventilating, and uncontrollable breath holding. Children with Rett syndrome also have social behavioral problems and loss of verbal language. After the primary regression the condition stabilizes and patients usually are able to survive into adulthood. Classic Rett syndrome and some variations of the condition are caused by mutations in the MECP2 gene. According to several studies, out of all of the females with Rett syndrome, about 80 percent of them had been identified as having a mutation in this gene. The MECP2 gene is very important for the development of the brain and any mutations of this gene slow the brains development. The gene plays a large role in making connections between nerve cells in the brain. Rett syndrome is now considered an X-linked dominant disorder after much research in 1999. Rett syndrome is caused by impairment in the methylation of DNA. Even though mutations in this gene cause many different problems within the brain it is still unclear how these problems in the brain lead to Rett syndrome. An astonishing number of more than 99 percent of Rett syndrome cases develop in people who do not have any history of the disorder in their family. The normal function of the MECP2 gene provides orders for making MeCP2 protein, which is crucial for the brain to function normally. This protein is important for the function of nearly all nerve cells and exists in high levels in developed nerve cells. Findings suggest that the MeCP2 protein plays a role in forming connections between nerve cells. This is where cell-to-cell communication occurs. The protein organizes how the DNA and other proteins interact when the nerve cells are stimulated to make sure the cells are responsive. When the MECP2 gene is mutated, the mutations include changes in one of the base pairs, extra or losses of DNA in the gene, and changes that affect the