Tuesday, April 21, 2009

MECP2 mutation screening for Rett syndrome in India

Rett Syndrome (RTT) is a severe form of X-linked mental retardation caused by mutations in the gene coding for methyl CpG-binding protein 2 (MECP2). The MECP2 gene provides instructions for making a protein (MeCP2) that is essential for normal brain development. This protein is found to be important for the function of nerve cells in the brain and is present in high levels in mature nerve cells. Various studies suggest that the MeCP2 protein plays a role in forming connections between nerve cells, where cell-to-cell communication occurs. This protein turns off other genes, preventing them from making proteins when they are not needed. It remains uncertain which genes are targeted by the MeCP2 protein, but such genes are probably important for normal brain function. Most cases of classic Rett syndrome are caused by mutations in the MECP2 gene. Males with mutations in the MECP2 gene often die before birth or in infancy. A small number of males with a MECP2 mutation, however, have developed signs and symptoms similar to those of classic Rett syndrome. Some of these boys have an extra X chromosome in many or all of the body's cells. The extra X chromosome contains a normal copy of the MECP2 gene, which produces enough of the MeCP2 protein for the boys to survive. Other males with features of Rett syndrome have mutations in the MECP2 gene that occur after conception and are present in only a fraction of the body's cells. In rare cases, researchers have discovered that the MECP2 gene is abnormally duplicated in boys with intellectual disability and some developmental problems characteristic of Rett syndrome. Although mutations in the MECP2 gene disrupt the normal function of nerve cells, it is unclear how these mutations lead to the signs and symptoms of Rett syndrome. We are providing mutation screening for MECP2 gene for Indian patients affected with Rett syndrome in our tertiary care hospital and research institute at following address. Genetics Unit, Department of Pediatrics, Old O.T block, Room no. 110, First floor, All India Institute of Medical Sciences, Ansari Nagar, New Delhi-110029 India Ph: 011-26594585 +919999343421 Patients are evaluated using the diagnostic criteria of Rett syndrome used worldwide and then enrolled for screening of MECP2 mutations and polymorphisms. Reference: http://ghr.nlm.nih.gov/gene=mecp2 (Genetics home reference)

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