What Causes Rare Disease that Hardens Tissue into Bone?

posted: 09/03/15
by: Discovery.com Staff
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Scientists have made a breakthrough in understanding Fibrodysplasia ossificans progressiva (FOR), a debilitating rare disease that causes soft body tissue to harden into bone.

According to a study published in the September edition of the journal Science Translational Medicine, researchers have identified the process through which a specific gene mutates, causing FOR. Coincidentally, the pharmaceutical company running the study already has a treatment developed for the newly understood form of mutation, Science Magazine reports.

That treatment has already proven successful under laboratory settings when tested on mice suffering from a similar condition, although it is unclear whether or not that same treatment will be equally as effective on humans.

Human skeleton
Milan Zeremski/iStock

Certain tissues are intended to ossify during infancy and childhood. In FOR sufferers, that hardening continues throughout the patient's life.

"This disorder causes the body's skeletal muscles and soft connective tissues to undergo a metamorphosis, essentially a transformation into bone, progressively locking joints in place and making movement difficult or impossible," the University of Pittsburgh Schools of the Health Sciences explains on its website.

The rare condition impacts one in every two million people, according to a study in the Journal of Medical Genetics.


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