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The Genetic Model of the Disease Fibrodysplasia Ossificans Progressiva and Its Potential Treatments – a Review.

“Fibrodysplasia ossificans progressiva” is genetically very uncommon disease, autosomally inherited, of a connective tissue which is responsible for unusual bone development, where bone should not develop, this condition is called “heterotopic ossification”. This mostly affects in ligament, soft tissues, tendons, muscles and it get converted into hard like bone structure through metamorphosis. The disorder is caused by a single mutation in ACVR1 gene, due to a particular substitution of an amino acid, arginine with a histidine at 206 positions. It’s a congenital disease so its first sign is seen in early childhood. Children with FOP have smaller great toe and abnormal distal first metatarsal. Still there are no evidence of any particular effective treatment for FOP but there are many clinical trials going on. Few drugs mainly corticosteroids for reducing pain and inflammations and patients are given occupational therapies and genetic counselling. Current research includes BMP pathway inhibition, immunosuppressants.