Article
Prophylactic treatment of rapamycin ameliorates naturally developing and episode -induced heterotopic ossification in mice expressing human mutant ACVR1.
Orphanet journal of rare diseases - 24 May 2020
Maekawa Hirotsugu, Kawai Shunsuke, Nishio Megumi, Nagata Sanae, Jin Yonghui, Yoshitomi Hiroyuki, Matsuda Shuichi, Toguchida Junya
Abstract excerpt
BACKGROUND: Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal-dominant disease characterized by heterotopic ossification (HO) in soft tissues and caused by a mutation of the ACVR1A/ALK2 gene. Activin-A is a key molecule for initiating the process of HO via the activation of mTOR, while rapamycin, an mTOR inhibitor, effectively inhibits the Activin-A-induced HO. However, few reports have verified the...
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