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)

Advertisements

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s


%d bloggers like this: