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Fragile X syndrome is a common hereditary cause of mental retardation and learning disability. Both males and females can be affected by fragile X syndrome, although females often have milder effects. Males with fragile X syndrome usually have mental retardation, and may have some autistic-like behaviors. Females with fragile X syndrome may have mental retardation or learning disabilities, social difficulties, and anxiety.
What causes fragile X? Fragile X is caused by mutations of a gene called the FMR1 gene. These gene mutations can affect the development of specific regions of the brain and make a person more susceptible to developing cognitive and behavioral difficulties. Individuals with the full mutation of the gene have fragile X syndrome, while individuals with the premutation of the gene usually are usually not affected. Individuals with the premutation, however, are at risk for having a child with the full mutation and fragile X syndrome.
The figure above shows the most common fragile X mutation- an expansion of extra DNA within a specific component of the FMR1 gene. In the premutation, the expansion is relatively small, however, in the full mutation the expansion is quite large and is usually accompanied by abnormal methylation. The presence of abnormal methylation leads to decreased production or absence of the FMR1 gene's protein product, called FMRP. The specific function of FMRP in the human brain is currently under study; current evidence suggests it may be involved in the regulation of proteins produced by other genes. Fragile X Research We are pleased to announce our third Fragile X Newsletter (2007) . At CIBSR researchers are engaged in a wide range of projects designed to address several questions concerning the fragile X syndrome.
To investigate the effects of fragile X on brain development and function we use a special type of brain imaging—Magnetic Resonance Imaging (MRI). MRI is non-invasive, safe, and does not use radiation or x-rays. The knowledge gained through this type of research holds promise in helping to develop more refined treatments as well as improved education for children and adolescents with fragile X. Outcomes of children with fragile X syndrome Structural magnetic resonance imaging of fragile X syndrome. Functional imaging in fragile X syndrome research. Behavioral and pharmacological treatment Resources Math and Money Learning Game
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