One mutation turns your body to stone

If you have watched the Norwegian movie, The Troll Hunter, you know how to beat trolls. Simply point a UV lamp at the troll and its body instantly turns to stone. According to the lead troll hunter, the “trolls’ adverse reaction to sunlight is due to their inability to convert Vitamin D into calcium, which causes their bodies to overreact.”
This is of course science fiction (some might claim otherwise?). But today when I was reading about a horrible genetic disease called Fibrodysplasia Ossificans Progressiva (FOP), I couldn’t help think of the turning of bodies into stone. In reality, this disease slowly causes muscles, joints and tendons to ossify (turn into bone) making the patient less and less mobile as the diseases progresses. One single mutation in a one gene is enough to cause this horrible disease. The molecular mechanism behind the disease involves the gene ACVR1 also known as ALK2. This gene encodes a receptor responsible for signaling by so-called bone morphogenic proteins (BMPs) that are responsible for tissue architecture and bone formation. A mutation changing one single amino acid from arginine to histidine changes the behavior of the receptor making it constantly active. This basically means that cells are were supposed to form soft connective tissue are slowly turned into bone cells.
The disease occurs in one of out two million individuals. There is no known cure. But recently, researchers have been able to show that by “knocking out” the mutant copy of the gene in cells taken from FOP patients, the expression of the the defective receptor can be reduced. This restores normal signaling levels in the cells and thus prevents the reprogramming into bone cells. Now, although these results are indeed exciting the question is as always, how quickly can this be translated into something that will actually help patients suffering from the disease?
Our own post-doc fellow, Lucy Lyons, did her PhD research on FOP and how drawing can reveal the breadth of unique experiences of the rare connective tissue disease. Her research examines how drawing as an activity leads to greater understanding of phenomena we experience. The beautiful yet terrifying drawings were recently featured on Friday Arts, a weekly art program on the Philadelphia PBS channel WHYY. The clip is shown below. You can find more of Lucy’s incredible artwork on Flickr.