Paper Summary:

This paper examines Fragile X syndrome, also known as Martin-Bell syndrome, one of the most frequently inherited forms/causes of mental retardation. It looks at how the disorder is derived from a genetically inherited, single-gene mutation and how individuals who have Fragile X syndrome have symptoms that are resultant from a mutated gene on the X chromosome. It provides a short introduction, the genetics behind the disease, the mechanisms of the protein production and lack of therapy, diagnosis and symptoms.

From the Paper:

"The cause of Fragile X all boils down to a change in a single gene: an alteration in the Fragile X Mental Retardation 1 (FMR1) gene. The mutation inactivates the FMR1 gene, which in turn interferes with the process involved in regulating FMRP protein content. This gene is located on the X chromosome, hence the name Fragile X syndrome. Current research indicates that the FMRP protein assists in cellular communication.3 The sex chromosome alleles for males and females are XY and XX, respectively. This establishes an understanding that Fragile X syndrome, involving the X chromosome, is a sex-linked trait. Since males and females contain either one or two X chromosomes, either can pass on the mutated gene to their offspring."

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