A terrible disease and yet maybe a hope against osteroporosis?
"Fibrodysplasia ossificans progressiva" (FOP) skeletonizes body tissue and makes the victim imprisoned in its own body.
What you see in the photo is complete bone tissue.
You might not think about your bones very often unless you break one. When you break a bone, the bone heals itself and begins to regrow. But, what if your muscles, tendons and ligaments turned to bone? What if you formed a skeleton on top of the one you already have? That’s what happens with Fibrodysplasia Ossificans Progressiva, or FOP.
FOP patients’ bones fuse together, essentially forming a second skeleton out of the tendons, ligaments and muscles- a true metamorphosis. The skeleton is almost one solid piece, and sheets of bone exist where they should not.
In FOP patients, extra bone formation almost always starts at the neck, spine and shoulders. Only then does it move to the other joints. Eventually, people with FOP will probably lose most of their mobility. Joints lock, and bones can twist into odd positions. Often, the jaw fuses together either spontaneously or as a result of an injection for dental work, which makes eating and brushing teeth extremely difficult.
The skeleton will fuse into one position, and that is the position a person with FOP will stay in for the rest of his or her life. Any attempt to remove the extra bone only leads to more extra bone re-formation. Only 700 people worldwide are known to have FOP, which makes this disorder extremely rare.
The reason for this disease seems to be a mutation in the gene encoding Activin receptor IA (ACVR1), that is important for the regulation of ossification (the production of bone tissue). This gene helps control bone morphogenetic proteins, or BMPs.
In FOP, the gene is active without BMPs- operating like a leaky faucet. When BMPs are present, the faucet explodes with activity and lacks inhibition. So it initiates ossification processes that can’t be regulated anymore.
However, the positive aspect of this syndrome is: This genetical clue might someday help scientists figure out how to make extra bone for people who need it, like people with osteoporosis.
Image found on wikipedia