AI Article Synopsis
- - Fibrodysplasia ossificans progressiva (FOP) is a rare and severe disorder where soft tissues gradually turn into bone, causing significant physical limitations and skeletal problems from birth.
- - The condition is linked to a mutation in a specific gene associated with a receptor that plays a role in cell differentiation, leading to better understanding of the disease itself and ossification processes.
- - Recent research on FOP has provided new insights into fundamental biological processes that could impact other health issues, suggesting a broader relevance for understanding human diseases.
Article 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.
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| http://dx.doi.org/10.1016/j.reuma.2014.05.001 | DOI Listing |
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