The Unfortunate Few Whose Bodies Turn Into Statues

Fibrodysplasia ossificans progressive is a disease in which muscle tissue and connective tissue such as tendons and ligaments are replaced by bone (ossified). This is a gradual process that generally begins in early childhood, starting at the neck and shoulders, eventually spreading to the limbs constricting movement. Once loss in joint mobility begins, those affected by this disease may be unable to use their mouth which leads to malnutrition. Difficulty breathing occurs when the extra bone forms around the rib cage. Any trauma caused to the muscles of someone with Fibrodysplasia ossificans progressive, including falls and invasive procedures, can trigger the ossification to the injured area. Viral infections such as influenza can also cause flare ups in the muscle with result in ossification. 

Fibrodysplasia ossificans progressive is a very rare disease. The estimates are approximately 1 in 2 million people worldwide have this condition. Only several hundred cases of the disease have been reported.  This disease is rare because it is caused by the genetic mutation in the ACVR1 gene. ACVR1 provides the instructions for the producing member of the protein family called bone morphogenetic protein type 1 receptors. ACVR1 is found in many tissues which include skeletal muscle and cartilage. Its role is to help control the growth and development of bones and muscles. This includes the gradual ossification that occurs normally from birth to adulthood. 

Researchers believe that a mutation in the ACVR1 gene may change the shape of the receptor in which disrupts the mechanism that controls the receptor’s activity. The constitutive activation of the receptor causes overgrowth of bone and cartilage as well as the fusion of joint. This condition is inherited in an autosomal dominant pattern. Most cases of Fibrodysplasia ossificans progressive are caused by a new mutation unseen in the family’s previous history. 

Article used: http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva

Related Article: http://news.discovery.com/human/genetics/what-causes-rare-disease-that-hardens-tissue-into-bone-150904.htm

The Surprising Reason Some People’s Muscles Suddenly Turn into Bone

People with Fibrodysplasia Ossificans Progressiva (FOP) live with uncertainty, knowing that their muscles or soft tissue will at some point transform into permanent bone and immobilize them or their appendage. It has been found that a genetic mutation which is found in 97% of the people with the disease can set off the symptoms. A single molecule, which was not suspected before is behind the debilitating disease. Thankfully the same company that discovered it, also has a treatment for it, which will stop the growth of unwanted and unnatural bone growth. 

I think this article is very interesting, because I truthfully have never heard of this disease before and couldn't imagine one day waking up and never being able to move my arm again or not being able to breath. I also think that it was an incredible piece of luck that the treatment for the disease once the mutation was found, was already developed. 

Original Article

Stone Man Syndrome

Fibrodysplasia ossificans progressiva (FOP) is a very rare disease that slowly turns muscle, ligaments, and tendons into bone. This disease has been nicknamed "stone man syndrome". According to a report found on the journal Science Translational Medicine, this disease is caused by a series of mutations in the ACVR1 gene, which controls muscle and bone development. The mutations in this gene are thought to over work it when it is exposed to the signaling protein called activin A. Early stages of stone man syndrome typically begin in the neck and gradually spreads down to the torso and limbs. Excess bone brought on by this disease may cause difficulty or inability to move in affected areas, such as the jaw or rib cage.

In recent developments, researchers at Regeneron Pharmaceuticals, Inc. have created an antibody that blocks the signaling protein activin A from the ACVR1 gene. This antibody has been tested on lab mice with the disease, and it has been found to successfully stop excess bone growth.

This article intrigued me because I have never heard of such a disease as this. Although it is a very rare disorder, I think that it is a wonderful thing that mankind has found a way to effectively treat a disease that does something as horrific as this, as you can see in the photo provided.