title: Is "fibrodysplasia ossificans progressiva" a vascular disease? A groundbreaking pathogenic model.
abstract: Fibrodysplasia ossificans progressiva is the most severe and disabling disorder of ectopic ossification in humans. It is characterized by congenital skeletal abnormalities in association with extraskeletal widespread endochondral osteogenesis. Virtually all patients show the same mutation in the "Activin A type-I/activin-like kinase-2" receptor encoding gene. As a result of this discovery there have been significant advances in the knowledge of the cellular and molecular basis of the disease. Besides allowing a better understanding of ossification process, recent evidence indicates that the primary disturbance lies within basic mechanisms of cell differentiation that are key in several physiological pathways and in the genesis of diseases with a major impact on health. In this article we summarize these breakthroughs, with implications that go beyond the limits of this devastating disease to insinuate a new model of human pathophysiology.
authors.affiliation: Instituto de Investigación de Enfermedades Raras, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, España. Electronic address: amorales@isciii.es.
authors.forename: Antonio
authors.initials: A
authors.lastname: Morales-Piga
authors.affiliation: Servicio de Reumatología, Hospital Ramón y Cajal, Madrid, España.
authors.forename: Francisco Javier
authors.initials: FJ
authors.lastname: Bachiller-Corral
authors.affiliation: Departamento de Biología Molecular y Celular del Leids Universitair Medisch Centrum (LUMC), Leiden, Holanda.
authors.forename: Gonzalo
authors.initials: G
authors.lastname: Sánchez-Duffhues
mesh_terms: D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D008954:Models, Biological; D009154:Mutation; D009221:Myositis Ossificans / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy; D014652:Vascular Diseases / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy
chemical_list: D005819:Genetic Markers
keywords: Bone morphogenetic protein; Endothelial-mesenchymal transition; Fibrodisplasia osificante progresiva; Fibrodysplasia ossificans progressive; Mutación; Mutation; Proteína morfogenética ósea; Transición endotelial-mesenquimal