Protein modeling predicts destabilization of the GS domain, consistent with constitutive activation of ACVR1 as the underlying cause of the ectopic chondrogenesis, osteogenesis and joint fusions seen in FOP.
It is shown that vascular endothelial cells can transform into multipotent stem-like cells by an activin-like kinase-2 (ALK2) receptor–dependent mechanism, and it is suggested that conversion of endothelial Cells to stem- like cells may provide a new approach to tissue engineering.
Heterotopic ossification consisting of mature lamellar bone formation and active bone remodeling is a relatively common and unexpected finding in end-stage valvular heart disease and may be associated with repair of pathological microfractures in calcified cardiac valves.
This extensive revision clarifies the roles of estrogen, other hormones, and cytokines in bone maintenance and resorption in osteoporosis and outlines the latest therapeutic guidelines.
The data strongly suggest that dysregulation of the BMP signaling pathway and an inflammatory microenvironment are both required for the formation of fibrodysplasia ossificans progressiva-like lesions.
Genotype‐phenotype correlation between some ACVR1 mutations and the age of onset of heterotopic ossification or on embryonic skeletal development is observed and protein structure homology modeling predicts that each of the amino acid substitutions activates the ACVR 1 protein to enhance receptor signaling.
Evidence that imprinting is a regulatory mechanism for GNAS1 expression is provided, and it is suggested that Gsalpha is a critical negative regulator of osteogenic commitment in nonosseous connective tissues.
At present, there is no definitive treatment, but a brief 4-day course of high-dose corticosteroids, started within the first 24 hours of a flare-up, may help reduce the intense inflammation and tissue edema seen in the early stages of the disease.
Frederick S. Kaplan, M.D. is a professor of Orthopaedic Molecular Medicine and co-Director of the Center for Research in FOP & Related Disorders at The Perelman School of Medicine and author of several books on FOP and related disorders.
Current physician practice may be inadequate for the diagnosis and treatment of osteoporosis in postmenopausal women who have sustained a distal radial fracture.