Find a mutation that generates FOP
2006/04/27 Galarraga Aiestaran, Ana - Elhuyar Zientzia
FOP is the acronym for a rare disease. The name of the disease is a progressive ossifying fibrodysplasia that causes repeated breakage and formation of bones and connective tissue. As a result, patients have the bones displaced and joined together, as if they had another skeleton above the natural one.
They estimate 2,500 patients in the world, so it is very rare. However, it is known to be hereditary, as it is common for it to appear in several members of the same family.
Researchers have been searching for the gene responsible for the disease for years and, finally, researchers at the University of Pennsylvania have discovered that it is produced by a mutation of the ACVR1 gene. ACVR1 participates in the creation of bones and cartilage. In patients with FOP this gene is altered and its activity is greater than necessary.
Their fungi are clearly seen on the upper x-ray. He leaves the University of Pennsylvania and shows the skeleton of a twelve-year-old patient.
Although the disease was incurable so far, the finding has aroused hope among doctors, patients and their environment.
More information at the international association of progressive ossifying fibrodysplasia IFOPA.
