What is Stone Man Syndrome ? How can Stone Man Syndrome be cured ?
Stone Man Syndrome, which occurs in approximately 2,500 people around the world, is a disease caused by a mutation in genes in regions 23 and 24 of the q (long) arm of chromosome 2. Stone Man Syndrome is the disruption of the connective tissue (specialized tissues that bind the tissues) in the body, especially under pressure and impact. Those with this syndrome cannot do physical activity, because with every blow they take, the area where they are hit is ossified. In addition, medical interventions such as biopsy and vaccination accelerate the petrification process. People with this disease cannot even perform simple operations such as hair combing, hanging and taking off their coats due to petrification. Now let’s take a closer look at this disease that makes life difficult to live.
FOP, or Fibrodysplasia Ossificans Progressiva ( gradual ossification of connective tissue ) causes the connective tissue to turn into bone. The reason for this is that the body repair mechanism is damaged as a result of a mutation. The gene with the mutation is the ACVR1 gene. As a result of this mutation, endothelial cells turn into impregnated bone marrow cells and they turn into bone. As a result of the injuries, those parts start to freeze and become ossified.
The mutation that causes this genetic disease occurs spontaneously in the gametes. And individuals with this disease usually don’t have children.
Stone Man Syndrome was formerly known as Myositis Ossificans Progressiva (“ossification of muscles”). However, research has shown that not only the muscles but also the entire connective tissue can turn into bones. Therefore, in 1970, the name of this disease was changed to Fibrodysplasia Ossificans Progressiva.
The most prominent common feature of children born with FOP is a deformed large toe. The process called “flare up”, which causes pain and lasts for 6-8 weeks, first occurs around the age of 10. Bone growth is from top to bottom as in fetuses.
FOP typically first appears in the dorsal, axial, cranial, and proximal parts of the body, then progresses to the ventral, appendicular, tail, and distal regions.
The gene that causes ossification is deactivated when it comes out of the mother’s womb, but this gene is active in FOP patients. For this reason, ossification is seen.
In patients with abnormal bone formation, lymphocytes containing excess bone, which are formed as a result of the expression of the wrong enzyme during apoptosis, which occurs when the connective tissue is damaged or muscle tissue is damaged or improper growth, is produced by the immune system’s response to the BMP4 gene. As a result of the inability to prevent the production of the wrong enzyme in the immune system, these lymphocytes continue to be produced and ossification continues. On the one hand, the body tries to destroy these extra bones, which accelerates bone formation. As a result, an independent skeleton is formed like a normal skeletal structure. But this skeleton unites with the main skeletal system of the body (It should be noted, BMP4 is the gene that should not be active when it comes out of the mother’s womb. Also, this gene provides bone formation in the fetus).
Also, interestingly, muscles such as tongue, cardiac muscle, and diaphragm muscle are preserved in this process, meaning they do not ossify.