Genetic Lesson & NEW Discovery in the Fragile X World

This is going to be a bit technical - but the news is well worth it! We promise we'll do some fun family entries soon.

First, it would probably help to give a little refresher in genetics and some history on how Fragile X Syndrome (FXS) is identified. All children receive 23 chromosomes from each of their parents, on which all our tens of thousands of genes are arranged like beads on a string. The 23rd pair, the sex chromosomes, differ between males and females. FXS is a single-gene disorder located on the X chromosome. In FXS, a gene called FMR1 suffers a mutation that shuts down the production of a protein - FMRP which is crucial for proper brain functioning. This protein appears to act as a brake on the production of other proteins in the brain, including those associated with learning and memory. Without enough FMRP, protein production spins out of control like a runaway train. The brain develops an abnormally dense number of connections, resulting in a variety of physical, mental and behavioral problems.

Because Jimmo is a male and only has an X and a Y chromosome, he is truly lacking this protein. This is why most boys with FXS have cognitive disorders. If a female has FXS they have another X chromosome, inherited from their father, which usually is a healthy chromosome not lacking the protein. So the affected X chromosome can take from the non affected X chromosome which results in less visible signs of FXS including cognitive disabilities. (Biology Class reminder - girls have two X chromosomes and boys have one X and one Y) We have not yet had Georgia tested and she shows no signs of any learning disabilities, in fact, she is a little smarty. She has a 50 - 50 chance of being a carrier of Fragile X. We'll let you know when she is scheduled for testing.

So our little man is missing a protein - and no drugs can technically replace the protein, at least with today's technology. The trick is to find other proteins which can be inhibited to offset the loss of the Fragile X protein (FMRP). Quick and dirty - In today's world they can't necessarily find a "TOTAL cure", but they might be able to offset the attributes of FXS with a drug that can balance the loss of this protein which COULD enable Jimmo to function more like an average child/adult.

O.K. the refresher in genetics is over and now on to the exciting news. In June of 2007, a Bangalore neuroscientist had identified an enzyme that causes Fragile X and successfully reversed its symptoms in mice. A specific enzyme in the brain called P21-Activated Kinase (PAK), when inhibited, reversed the debilitating symptoms of Fragile X in mice. Now as exciting as this news was, one has no idea how long it would be till they create the drug, and then human trials, FDA approval etc. Creating a drug can take 8-10 years, so the idea is to find a current drug that includes this enzyme. And there is always the small print, every human reacts differently with drugs, so even if a drug is found there is no guarantee of this enzyme's success.

A few days before Christmas, a very exciting report was sent out. Scientists actually have discovered a drug that was developed in the early 70s for anxiety - Fenoban, but never put on the market. This drug actually blocks some brain receptors as the testing did for the mice earlier this year. The FDA has approved human trials for early 2008. If you'd like to read the report - http://view.emarketing.listengage.com/?j=fe4e1573726c0c7b7d1c&m=feff1679706404&ls=fdfd11737562017975157473

So this is all very exciting news for our little Jimmo and we're looking forward to hearing more about these human trials. Taking all of this news with caution and a little bit of realism of course!
Fox News did a small clip on this a few days ago. Below is the link if you would like to listen. You might begin to hear FXS being called a form of autism. Just for clarification......Fragile X Syndrome is specifically a genetic disorder and is the most common form of inherited mental retardation. FXS is the most common known cause of autism or "autistic-like" behaviors. Unfortunately unlike FXS, as of today, there is not an "official" cause of autism. Lots of speculation, but nothing official. Roughly 1 in 3,600 people have Fragile X Syndrome, where 1 in 150 have been diagnosed with autism. With that said - 5% of autistic kids have been diagnosed with FXS. It is very common that FXS boys also are diagnosed with autism, ADHD etc. The reporters in this story are not correct in referring to Fragile X in the manner they do, just further evidence how complicated and confusing this disorder is. The point of this story is to say that unlike many horrible diseases, we actually have reasons to be quite hopeful that one day our son COULD have a treatment that will enable him to function and interact with this world in a much more complete manner.

So that probably confused matters even more, but just in case you'd like to see the story, here is the link for Fox News. http://www.foxnews.com/health/index.html

Select Health headlines of 2007 then "Autism Breakthrough?"

More pictures and family stories to come - this one was all business! Great business at that!