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 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.
ReplyDeleteIt 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.
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