ba0005p465 | Other diseases of bone and mineral metabolism | ECTS2016
Nannuru Kalyan
, Jimenez Johanna
, Huang Lily
, Wen Xialing
, Wang Lili
, Xie LiQin
, Idone Vincent
, Murphy Andrew
, Hatsell Sarah
, Economides Aris
Fibrodysplasia ossificans progressiva (FOP) is a rare debilitating genetic disease characterized by abnormal progressive heterotopic endochondrial ossification of soft tissues. FOP results from mutations in the intracellular domain of the type I BMP receptor ACVR1 (ALK2) the most common of which is R206H. FOP mutations alter the sensitivity of ACVR1 to Activin A from an antagonist to an agonist. We have previously shown that Activin A is necessary and sufficient for driving he...