Rare Bone Disease: Solved
The University of Pennsylvania School of Medicine announced on Sunday that they have pinpointed the cause of fiberodysplasia ossificans progressiva, or, FOP. The rare disease causes the body to form a "second skeleton," imprisoning the person - usually a child - in bones for life. The rare disease is thought to affect 2,500 people worldwide.
The team concluded that FOP is caused by a single mutation in a gene called ACVR1. It's basically a glitch in the body's genetic makeup, which causes tendons, ligaments and skeletal muscle to painfully transform into bone. In some cases, it locks the joints into place overnight.
Scientist hope that this will lead to a drug that would block or bypass the trigger of the extra bone growth. This could also lead to breakthroughts for additional bone growth (like the kind that sometimes happens after hip-replacement surgery). This future study of bone growth might also help people who have bone breakdown, or, osteoporosis. (source)
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