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Discovered the gene of the illness (April 2006)
Finally after many years of hard searches, to the University of Pennsylvania School of Medicines in Philadelphia, the gene has been open that causes the illness of the fibrodisplasia progressive ossificante.
The discovery of this key gene, announced on the magazine Natures Genetics from Frederick Kaplan and Eileen Shore, it is important to be able to face as this rare devastante illness that the body of the patient imprisons in a second skeleton, but you/he/she could be also useful for common bony pathologies.
The experts have worked all over the world years on families shed multigenerazionali finding at the end the guilty one, the gene for the receptor “Activin Receptor Type IA” ACVR1 on the chromosome 2. This receptor has a key role in the mechanism of morphogenesis of the bone and participates therefore in the operation of the system of signaling of the so-called proteins of the bony morphogenesis.
The geneticists have discovered that in the patients there is a dwarfish defect of the gene defect that causes a malfunction of ACVR1 that brings to the illness. Now the experts are working to the creation of a “modified mouse”, or rather an experimental model of the illness to understand what happens to molecular level for the mutation of the gene ACVR1. Inclusive this, has concluded once the geneticists, you/he/she can be thought about cares for this devastante illness.
‘' The first result - it comments Frederick Kaplan, researcher-head - it will be that to come to slow down the formation rebellious ‘of bony material.”