THE QUESTION THAT STUMPED US BOTH!!!

This is a post inspired by the final 20 minutes of today’s class that sparked a conversation that had both Dr. Risser and I stumped. So I decided to do some research, for my own personal understanding, and said to myself: “Self….this is a perfect opportunity for a blog post.” Here is what I found out about Fragile “X” Syndrome (FXS).

Fragile X Syndrome or Martin-Belle syndrome is a genetic syndrome which results in a spectrum of characteristic physical and intellectual and emotional behavioral features which range from severe to mild in manifestation. The syndrome is associated with the expansion of a single trinucleotide gene sequence on the X chromosome, and results in a failure to express protein coded by the FMR1 gene, which is required for normal neural development. It is more common in the male but the female is not immune to it.

It is a syndrome that is fairly rare and found in 1 of 3600 males and 1 of 4,000-6,000 females. Some of what this syndrome affects is physical features, social interaction, working memory, intellectual development, hypersensitivity and repetitive behavior, and visual orientation. You may ask yourself, what actually causes this? Fragile X is caused by a mutation of the FMR1 gene on the X chromosome. Normally, the FMR1 gene contains between 6-55 repeats of the CGG codon (trinucleotide repeats). In people with Fragile X syndrome, the FMR1 allele has over 230-4000 repeats of this codon. Expansion of the CGG repeating codon to such a degree results in a methylation of that portion of the DNA, effectively silencing the expression of the FMR1 protein.

What can you do to treat this? Although there has been several medications proposed to treat FXS, none of them have been supported by good evidence. While there is no known cure, there is hope that further understanding of its underlying causes that will lead to new therapies. Currently the syndrome can be treated through behavioral therapy, special education, and when necessary, treatment of physical abnormalities.

I hope this shed some light on it the subject of FXS and what it is all about.