Sunday, November 22, 2015

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. 

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  1. The picture on this blog post truly caught my eye when I saw it and made me so interested in seeing what this was about. After reading this I was surprised to learn about fibrodysplasia ossificans progressive and what it was since I was completely clueless. It is mind blowing how rare the disease is and how it can be in your family and be passed down through a new mutation. It is also crazy how just from one new mutation it can effect your entire body including breathing and joint mobility. I am glad I got the chance to learn about something that might be very rare in the world, but can still effect someone.

  2. It is so interesting that such a small part of the human molecular makeup can make such an impact a person's entire life. By simply turning something on or off, it completely changes one of the things that makes a living being considered living--mobility.