“Still Hungry for a Cure!”

Good morning friends! I hope everyone is having a lovely day! Today’s post is going to be about another interesting genetic disorder: Prader-Willi Syndrome (PWS).

Every human has lots and lots of DNA. All of you DNA is packaged up ever-so-carefully by your cells and stored in coiled bars known as chromosomes. Humans have 23 chromosomal pairs: one set from your mom and one set from your dad. Problems with your chromosomes can lead to some major problems in life. And this is the case with Prader-Willi Syndrome. PWS is caused by a problem on a person’s 15th chromosome. Several of the genes on the chromosome from the mom are disrupted and turned off (science jargon: silenced due to imprinting) and/or some of the genes on the chromosome from the dad are missing (deleted). The genes messed up are ones associated with regulating appetite. This is not a disorder created by one little DNA slip-up – a bunch of things are missing. The majority of time these chromosomal issues happen randomly at the time of conception. Very rarely will a parent pass this mutation along to another child. PWS is considered a rare disorder, but a very common rare disorder. Anywhere from one in 12,000 to 15,000 children are born with this disorder.

Ok, so a screwed up 15th chromosome… but what is PWS?

People living with PWS are never full – really, they are always hungry. A flaw in the part of the brain (hypothalamus) that controls hunger makes these people constantly looking to eat. They can become consumed with thoughts of food and eating. PWS also creates a metabolism that requires a lot less calories per day than a typical person. Needing fewer calories coupled with always being hungry can be a very dangerous and potentially fatal situation - supervision is a must. This is especially true for a child. With no supervision, a child with PWS could eat themselves to death.

At birth the baby will have a low birth weight, weak muscles and seem to have a hard time thriving/gaining weight. Typically between the ages of 2-5 is when the super appetite kicks in. PWS is also characterized by social and motor skill issues, lower IQs (around 70), small stature, small hands and feet, obesity, frequent skin picking, OCD tendencies and poor/incomplete sexual development. PWS people are also usually extremely flexible. There is no cure for PWS, but with treatment and a good support group, people can live long happy lives. Further research into PWS could lead to understanding (and possibly curing) the genetics of all obesity issues.

So there is yet another example of how powerful our genes are. Next time I really need to give an example of a positive mutation – a mutation does not always create a bad outcome.