Fragile X Disease Essay example

Fragile X Disease Essay example

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Fragile X is a disease which severely influences the everyday lives of those affected by it. It is a disease which unfortunately limits an individual in several respects. Physical symptoms include an elongated face with larger than normal ears and feet. Additionally, the individual will have a difficult time interacting with others due to shyness and trouble with processing faces, thus encountering behavioral road blocks. Most importantly, the individual may have intellectual disabilities such as difficulty with memory, all a result of having Fragile X.
Fragile X is the most common single gene which leads to autism and other intellectual disabilities. Fragile X is transmitted through DNA. Within the DNA, it has been found that the trinucleotide sequence CGG (Cytosine-Guanine-Guanine) is repeated many times due to mutation. Those with mild Fragile X have between 30-200 repeats, whereas those with the full syndrome can have as many as 200-800 CGG repeats. (The National Fragile X Foundation). These repeated nucleotides are found within the X-chromosome, and are the result of a gene called FMR1 (Fragile X Mental Retardation) failing to express a protein called FMRP. The specific location of FMR1 on the X chromosome is Xq27.3 (The National Fragile X Foundation). An illustration of this can be seen on figure 1.

Figure 1: FMR1 location on X chromosome (The National Fragile X Foundation)
The amount of FMRP created within the body is what determines the range of severity of Fragile X. Having slightly less than normal amounts of FMRP within the body usually results in very minor symptoms, whereas having very little FMRP will result in more severe symptoms of Fragile X. This is due to FMRP playing a role in binding certain mRNA and ...


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7) Eidelberg, David. "Intervention." The National Fragile X Foundation. The Merck Manuals, Aug. 2007. Web. 02 Dec. 2011. .

8) Fragile X Clinical and Consortium Research. "Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) ." Consensus of the Fragile X Clinical & Research Consortium on Clinical Practices. June 2011. Web. 2 Dec. 2011.

9) Hagerman Labs. "FXTAS: Hagerman Lab." Hagerman Labs. 2009. Web. 02 Dec. 2011. .

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