THE GENETIC MODEL OF THE DISEASE FIBRODYSPLASIA OSSIFICANS PROGRESSIVA AND ITS POTENTIAL TREATMENTS – A REVIEW.

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Published Sep 8, 2021
Ritwija Bhattacharjee

Abstract

 “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 is a congenital disease so its first sign is seen in early childhood. Children with this disorder is seen to 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. The patients are mostly given occupational therapies and genetic counselling. Currently researches are going on that includes BMP pathway inhibition, immunosuppressants.

How to Cite

Bhattacharjee, R. (2021). THE GENETIC MODEL OF THE DISEASE FIBRODYSPLASIA OSSIFICANS PROGRESSIVA AND ITS POTENTIAL TREATMENTS – A REVIEW. SPAST Abstracts, 1(01). Retrieved from https://spast.org/techrep/article/view/174
Abstract 17 |

Article Details

Keywords

Fibrodysplasia, Ossificans, Progressiva, ACVR1 gene, BMP, Amino acids, Heterotopic Ossification (HO), Immunosuppressants.

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NB:Biology