Rett syndrome is the condition in which there will be reversal of development in the nervous system causing difficulty in speech and in moving hands. This disorder is genetic in nature and is caused by the mutation in the gene of MECP2 (meck pea two) gene. This gene is fundamentally responsible for controlling certain functions of the body and produces a protein by name methyl cytosine. This protein is very essential for normal brain development and for managing other genes involved in movements. When there is deficiency in this gene, it would stop the functions of other genes and protein synthesis causing more complications.
Scientists are yet to find out how these genes can cause this disorder. But one cannot say for sure that every person who has MECP2 gene mutation will suffer from Rett syndrome. Another interesting feature about this disorder is it is not inherited and it is found only 1% of the case inherit this disorder from their parents. There are many females in a family who carry MECP2 gene but do not have symptoms for Rett disorder.
Who Is At Risk ?
Studies say that one person in every 15,000 girls will have Rett syndrome. Girls are more affected with this disorder than boys. Now it is possible to find out through genetic testing methods whether any sister of the affected child carries the mutated gene or not. Girls normally will have two X chromosomes but one of them can be defective causing this disorder.
The intensity of the disorder and abnormality will be determined by the percentage of cells that contains normal copy of MECP2. They will have mild symptoms of disorder if the active X chromosome that carries the defective gene is minimized with the presence of large number of good cells. Again the symptoms will be severe if there is large percentage of cells that carries the defective X chromosome.