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Fragile X Syndrome: Genes
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A birth, there may be few outward signs of fragile X syndrome in the newborn infant. However, fragile X symptoms may include a large head circumference and oversized testes in males. An experienced geneticist may recognize subtle differences in facial characteristics.
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Fragile X syndrome gets its name from the appearance of the section of the X chromosome where the gene mutation occurs. In certain conditions, under a microscope, the section of the chromosome looks fragile, as if it is dangling by a thread.
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Scientists at The Scripps Research Institute have discovered a new gene involved in fragile X syndrome, a condition that often shares many symptoms of autism. The discovery may lead to new tests or treatments for several neurological disorders.
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This project is based on the fact that in almost all fragile X patients the coding region of the fragile X gene (FMR1) is undamaged but "turned off" by a defect in the region of DNA that regulates the gene. Dr. Neri and his team are trying to reverse methylation and turn the gene back on. 2000-2002
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In their experiments to test this idea, the researchers studied mice that produce many of the characteristic pathologies of fragile X in humans due to a loss of the FMRP gene. The critical test, though, was when they ... created double mutant mice that lacked both the FMRP gene and had a 50% reduction in mGluR5. They chose only to reduce the activity of the metabotropic glutamate receptor gene, rather than eliminate it, in order to reflect what might be achieved using drug treatment for fragile X in humans.
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For treatment modalities to be instituted for the fragile X syndrome, suppression of expansion, restoration of expression, small molecule agents, and gene replacement will need to be considered. As of now, these are tasks for the future.
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