Fibrodysplasia Ossificans Progressiva Essay

1518 Words Oct 19th, 2012 7 Pages
The Second Skeleton inside Me

Human Anatomy and Physiology 1

The Second Skeleton inside Me

Affecting only one in every 2 million people Fibrodysplasia ossificans progressiva (FOP) is one of the rarest genetic disorders of congenital skeleton malformations; identified by congenital malformation of the big toe at birth. Flare-ups occur by soft tissue injury followed by immobility. A mutation in the activin receptor IA/activin-like kinase 2 (ACVR1/ALK2), and bone protein (BMP) type I receptor were reported in all cases of FOP, making this a specific disease causing mutations in the human genome (Kaplan, 28 O). However, there is no current cure for FOP there are new developing treatments. The benefit to studying this rare
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I believe the letter wrote by Jules Rosenstirn triggered researchers to look further in to this mysterious disorder and try to identify the case of this bone binding disorder. Today, FOP affects one in 2 million people; an estimated amount of people affected with FOP worldwide is only 3,300. Researchers are only aware of approximately 700 confirmed cases worldwide with only 185 cases in the United States with no know ethnic patterns associated with it ("IFOP a website," 30 M). Though FOP is rare, it is however, a genetic disorder and in some cases it maybe inherited by a parent that carries the gene (McRot, 2012). However, in most cases, it’s a new mutation in the gene (McRot, 2012). The gene affected known as ACVR1 provides instructions for producing a protein called bone morphogenetic protein known as BMP type I receptors and found throughout the body tissue, including the skeletal muscle and cartilage (McRot, 2012). According to the Nih genetics home reference “It helps to control the growth and development of the bones and muscles, including the gradual replacement of cartilage by bone (ossification) that occurs in normal skeletal maturation from birth to young adulthood” (McRot, 2012). Researchers think that the mutation in the ACVR1 gene changes the shape of the receptor and disrupts mechanisms that control the receptor’s activity, which in turn the receptor is constantly activated; as the

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