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Takenobu Katagiri  (Katagiri T) 1 Article
Bone Metabolism
Recent Topics in Fibrodysplasia Ossificans Progressiva
Takenobu Katagiri, Sho Tsukamoto, Yutaka Nakachi, Mai Kuratani
Endocrinol Metab. 2018;33(3):331-338.   Published online September 18, 2018
DOI: https://doi.org/10.3803/EnM.2018.33.3.331
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  • 19 Web of Science
  • 22 Crossref
AbstractAbstract PDFPubReader   ePub   

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease that is characterized by the formation of heterotopic bone tissues in soft tissues, such as skeletal muscle, ligament, and tendon. It is difficult to remove such heterotopic bones via internal medicine or invasive procedures. The identification of activin A receptor, type I (ACVR1)/ALK2 gene mutations associated with FOP has allowed the genetic diagnosis of FOP. The ACVR1/ALK2 gene encodes the ALK2 protein, which is a transmembrane kinase receptor in the transforming growth factor-β family. The relevant mutations activate intracellular signaling in vitro and induce heterotopic bone formation in vivo. Activin A is a potential ligand that activates mutant ALK2 but not wild-type ALK2. Various types of small chemical and biological inhibitors of ALK2 signaling have been developed to establish treatments for FOP. Some of these are in clinical trials in patients with FOP.

Citations

Citations to this article as recorded by  
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