A Mutation Complex Comprising Gain-of-Function Mutation in BMPR2 and Uses Thereof

摘要

In addition to the existing ACVR1-R206H mutation, which is known as the cause of FOP, a mutation of a specific gene is discovered as a new case of a FOP-like phenotype, while the effect of combined expression with the existing ACVR1-R206H mutation is confirmed and it is a bone disease through osteogenic differentiation. Techniques usable for treatment are disclosed. The present invention relates to a BMPR2-E376K mutant in which the amino acid at position 376 of the BMPR2 gene encoding BMPR2 (bone morphogenetic protein type 2 receptors) is mutated from glutamic acid (E) to lysine (K), and ACVR1 (activin A type I receptor) ) provides a mutation complex comprising an ACVR1-R206H mutant in which the amino acid at position 206 of the ACVR1 gene is mutated from arginine (R) to histidine (H).