Tuesday, September 18, 2012

The Gene....

Which gene is related to Fibrodysplasia Ossificans Progressiva (FOP)?

Mutation in ACVR1 gene cause Fibrodysplasia Ossificans Progressiva (FOP).
The ACVR1 gene provides instructions for producing a member of a protein family called bone morphogenetic protein (BMP) type I receptors. The ACVR1 protein is found in many tissues of the body including skeletal muscle and cartilage. It helps to control the growth and development of the bones and muscles, including the gradual replacement of cartilage by bone (ossification) that occurs in normal skeletal maturation from birth to young adulthood.
Researchers believe that a mutation in the ACVR1 gene may change the shape of the receptor under certain conditions and disrupt mechanisms that control the receptor's activity. As a result, the receptor may be constantly turned on (constitutive activation). Constitutive activation of the receptor causes overgrowth of bone and cartilage and fusion of joints, resulting in the signs and symptoms of Fibrodysplasia Ossificans Progressiva (FOP).

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