LYCOS RETRIEVER 
Fragile X Syndrome: Fmr1 Gene
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In 1991, scientists discovered the gene (called FMR1) that causes Fragile X. In individuals with Fragile X Syndrome, a defect in FMR1 (a full mutation) shuts the gene down. Like a defective factory, the FMR1 gene cannot manufacture the protein that it normally makes. Some individuals are fragile X carriers; they have a small defect in the FMR1 gene (called a premutation) but do not show symptoms of Fragile X .
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Fragile X syndrome is the most common inherited cause of mental retardation. Fragile X-associated tremor/ataxia syndrome (FXTAS) was recently defined as a disorder that affects carriers of the Fragile X gene, called FMR1. People with FXTAS carry the FMR1 gene and develop symptoms later in life, usually starting in their 60s and 70s. Ataxia is the inability to coordinate voluntary muscle movements.
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The FMR1 gene that is defective in Fragile X syndrome was discovered in 1991 by a collaboration of investigators, including several from Baylor College of Medicine. The FMR1 protein that is normally produced from this gene interacts with messenger RNA (ribonucleic acid) molecules in a variety of cell types, and has ... been shown to associate with ribosomes, where protein assembly takes place. However, its function and the consequences of its absence are still unknown.
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The diagnosis of the fragile X syndrome is confirmed by the detection of an increased number of CGG trinucleotide repeats (over 230) in the FMR1 gene, usually with aberrant methylation of the FMR1 gene. The increased trinucleotide repeats and methylation changes in FMR1 can be detected by molecular genetic testing.
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[One] line of study at Baylor College of Medicine is an investigation into the behavioral aspects of Fragile X syndrome (hyperactivity, hyperarousal, and increased anxiety in social situations). Mice that lack the equivalent of the human FMR1 gene and mice that have an overabundance of the gene protein product will both be tested for differences in various types of social and anxiety-related behaviors. Physiological tests will ... be performed to see if there is any correlation between those results and the observed behaviors.
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In people with fragile X, a particular section of the DNA code — CGG — is "fragile" and gets repeated an unusually large number of times, compared with the normal 5 to 50 times. As a result, the FMR1 gene is not expressed (turned on), and the body cannot produce FMR1 protein, which is related to nerve function.
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Fmr1 Gene