Saturday, February 10, 2007
Fibrodysplasia Ossificans Progressiva
This is another rare genetic disease, affecting only 1 in 2,000,000 people globally. Simply put, the white blood cells mistakenly destroy healthy muscle tissue instead of invading bacteria. Not only that, but a protein called BMP, normally used to build normal bone, begins to ossify (turn to bone) muscle.
Researchers suspect that the gene responsible for forming fetal bone fails to "switch off" and continues attempting to produce bone. The exact gene has not yet been discovered.
Picture from Mütter Museum, College of Physicians of Philadelphia. Reprinted from the New England Journal of Medicine
http://www.uphs.upenn.edu/ortho/oj/1998/oj11sp98p59.html
Read more here:
USCF Children's Hospital
http://www.ucsfhealth.org/childrens/medical_services/cancer/fop/index.html
and
NCBI
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.section.252
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