How Can a Genetic Mutation Cause Muscle to Turn into Bone?

Summary: Ibrodysplasia ossificans progressiva (FOP) is a rare, genetic disease that turns tissue cells into bone cells. "By early childhood, some of the body's connective tissues—including muscles, ligaments and tendons—have begun ossifying into skeletal bone, locking the joints and distorting posture and movement. " Studies have been conducted to determine the cause of this disease; it has been found that all patients suffering from FOP have the same nucleotide change in their genes. The mutations is in the ACVR1 gene, which has a protein in charge of spanning the cell membrane. The ACVR1 protein moves to the BMP (bone morphogenetic protein) pathway. The BMP is what usually makes cells differentiate between cartilage and bone. This "mix" is what causes the "malfunctioning" of tissue cells turning into bone cells. FOP is an extremely rare genetic disease (occurring in every one in two million). Bent toes at birth are the main indication of the disease and common symptoms (bone formation that causes a locking of the joints and distorting posture and movement) can arise from a few months of age, to ten years of age.

Analysis:

The article is an example of discovery science because FOP was discovered, and then research was conducted to find its causes and examine its symptoms. The scientists studying it did not have an idea of what it was, or a hypothesis on how it was formed; they discovered it and then studied it. This research is important for humans because it reveals the importance of the power and magnitude that a small, genetic mutation can have on an organism. Just by the ACVR1 protein's relocation to the BMP, massive effects take place. The impact is great, a baby is born with curled toes that will leader lead to much bone deformation. The muscle cells, literally turn into bone cells!

Citation:

Katherine Harmon, How Can a Genetic Mutation Cause Muscle to Turn into Bone?, Scientific American, December 2, 2009