AI Article Synopsis
- * The ACVR1 mutations disrupt normal bone growth and influence various bodily systems, including inflammation, wound healing, and pain sensitivity.
- * The article discusses the complex features of FOP, suggests ways to address these symptoms, and identifies critical gaps in current knowledge about the disorder.
Article Abstract
Fibrodysplasia ossificans progressiva (FOP), a disorder of congenital skeletal malformations and progressive extraskeletal ossification, is the most severe form of heterotopic ossification (HO) in humans. Gain-of-function pathogenic variants in activin A receptor type I (ACVR1), a bone morphogenetic protein (BMP) type 1 receptor, cause FOP by dramatically altering the normal physiologic functions of ACVR1, impacting BMP signaling and other interacting pathways. These alterations affect various systems, including inflammation, innate immunity, hypoxia sensing, wound healing, aging, temperature and mechanical thresholds, pain sensitivity, skeletal growth, diarthrodial joint patterning, joint function and fate, and HO. This article examines the emergent properties of FOP's diverse phenotypes, proposes a schema for targeting these phenotypes, and highlights outstanding questions and knowledge gaps.
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| http://dx.doi.org/10.1016/j.molmed.2024.08.010 | DOI Listing |
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