Human bones are crucial to aid body movement and stabilize joints. However, the ossification of bones where it shouldn’t be present can cause many difficulties in the body’s ability to perform natural movements. Fibrodysplasia Ossification Progressiva (FOP) is an extremely rare autosomal dominant disease in which the muscles, ligaments, and tendons progressively transform into bone (Kaplan, Nassau, & Shore, 2014). This formation of new bone forms outside the natural skeleton structure (See figure 2, Page 6), making this excess bone completely unnecessary and therefore harmful. Despite Fibrodysplasia Ossification Progressiva only occurs in one in every two million people worldwide, it is important to recognize the overall metabolic and physiological
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However, it wasn’t until 2006 that it was discovered that the gene ACVR 1 in chromosome 2 was the main cause of FOP (Kaplan, Nassau, & Shore, 2014). This gene is responsible for providing instructions to a protein that assists the development and replacement of bone in the human body. What happens, is that the gene mutation that occurs in ACVR 1 alters stem cells ability to differentiate into the specific types of tissues or cells that are needed to repair injuries and replace cells (Kaplan, Nassau, & Shore, 2014). This causes stem cells to express the mutant receptor that only triggers cells that replace cartilage and bone. Therefore, it overproduces bone where it is not needed, leading to Fibrodysplasia Ossification …show more content…
From the cells to the organism itself, if one level is disrupted it can affect all other levels of organization. FOP begins affecting at the cellular level. Like mentioned in the above section explaining the causes of FOP, stem cells are affected and altered. Stem cells are responsible for developing into cells with a specialized function that the body needs to repair something as simple as a bruise. When stem cells are altered by the mutation, it prevents them from knowing what specific cells they are supposed to become. Instead, it only allows them to become cells that are specialized in replacing bone. Although, cells that replace bone are important to the human body, too much of them is what leads to Fibrodysplasia Ossification Progressiva. The overproduction of these cells makes them fix all minor and major injuries in the body because other cells are not present. This leads to the production of bone in unnecessary places, which damages the skeletal muscle tissues and other connective tissues like fascia, ligaments, and tendons (Kaplan, Chakkalakal, & Shore, 2012). The tissues are damaged by severe inflammation, which then leads to the damage of organs and entire organ systems. In this case, the organ systems that are affected the most are the muscular and skeletal systems. Eventually, the whole organism will be affected. A person with FOP will not be bale to live a normal life because
However, it wasn’t until 2006 that it was discovered that the gene ACVR 1 in chromosome 2 was the main cause of FOP (Kaplan, Nassau, & Shore, 2014). This gene is responsible for providing instructions to a protein that assists the development and replacement of bone in the human body. What happens, is that the gene mutation that occurs in ACVR 1 alters stem cells ability to differentiate into the specific types of tissues or cells that are needed to repair injuries and replace cells (Kaplan, Nassau, & Shore, 2014). This causes stem cells to express the mutant receptor that only triggers cells that replace cartilage and bone. Therefore, it overproduces bone where it is not needed, leading to Fibrodysplasia Ossification …show more content…
From the cells to the organism itself, if one level is disrupted it can affect all other levels of organization. FOP begins affecting at the cellular level. Like mentioned in the above section explaining the causes of FOP, stem cells are affected and altered. Stem cells are responsible for developing into cells with a specialized function that the body needs to repair something as simple as a bruise. When stem cells are altered by the mutation, it prevents them from knowing what specific cells they are supposed to become. Instead, it only allows them to become cells that are specialized in replacing bone. Although, cells that replace bone are important to the human body, too much of them is what leads to Fibrodysplasia Ossification Progressiva. The overproduction of these cells makes them fix all minor and major injuries in the body because other cells are not present. This leads to the production of bone in unnecessary places, which damages the skeletal muscle tissues and other connective tissues like fascia, ligaments, and tendons (Kaplan, Chakkalakal, & Shore, 2012). The tissues are damaged by severe inflammation, which then leads to the damage of organs and entire organ systems. In this case, the organ systems that are affected the most are the muscular and skeletal systems. Eventually, the whole organism will be affected. A person with FOP will not be bale to live a normal life because