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Inherited human diseases of heterotopic bone formation.
Nat Rev Rheumatol. 2010 Sep; 6(9):518-27.NR

Abstract

Human disorders of hereditary and nonhereditary heterotopic ossification are conditions in which osteogenesis occurs outside of the skeleton, within soft tissues of the body. The resulting extraskeletal bone is normal. The aberration lies within the mechanisms that regulate cell-fate determination, directing the inappropriate formation of cartilage or bone, or both, in tissues such as skeletal muscle and adipose tissue. Specific gene mutations have been identified in two rare inherited disorders that are clinically characterized by extensive and progressive extraskeletal bone formation-fibrodysplasia ossificans progressiva and progressive osseous heteroplasia. In fibrodysplasia ossificans progressiva, activating mutations in activin receptor type-1, a bone morphogenetic protein type I receptor, induce heterotopic endochondral ossification, which results in the development of a functional bone organ system that includes skeletal-like bone and bone marrow. In progressive osseous heteroplasia, the heterotopic ossification leads to the formation of mainly intramembranous bone tissue in response to inactivating mutations in the GNAS gene. Patients with these diseases variably show malformation of normal skeletal elements, identifying the causative genes and their associated signaling pathways as key mediators of skeletal development in addition to regulating cell-fate decisions by adult stem cells.

Authors+Show Affiliations

Department of Orthopedic Surgery, University of Pennsylvania School of Medicine, 424 Stemmler Hall, 3450 Hamilton Walk, Philadelphia, PA 19104-6081, USA. shore@mail.med.upenn.eduNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

20703219

Citation

Shore, Eileen M., and Frederick S. Kaplan. "Inherited Human Diseases of Heterotopic Bone Formation." Nature Reviews. Rheumatology, vol. 6, no. 9, 2010, pp. 518-27.
Shore EM, Kaplan FS. Inherited human diseases of heterotopic bone formation. Nat Rev Rheumatol. 2010;6(9):518-27.
Shore, E. M., & Kaplan, F. S. (2010). Inherited human diseases of heterotopic bone formation. Nature Reviews. Rheumatology, 6(9), 518-27. https://doi.org/10.1038/nrrheum.2010.122
Shore EM, Kaplan FS. Inherited Human Diseases of Heterotopic Bone Formation. Nat Rev Rheumatol. 2010;6(9):518-27. PubMed PMID: 20703219.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Inherited human diseases of heterotopic bone formation. AU - Shore,Eileen M, AU - Kaplan,Frederick S, Y1 - 2010/08/10/ PY - 2010/8/13/entrez PY - 2010/8/13/pubmed PY - 2010/12/25/medline SP - 518 EP - 27 JF - Nature reviews. Rheumatology JO - Nat Rev Rheumatol VL - 6 IS - 9 N2 - Human disorders of hereditary and nonhereditary heterotopic ossification are conditions in which osteogenesis occurs outside of the skeleton, within soft tissues of the body. The resulting extraskeletal bone is normal. The aberration lies within the mechanisms that regulate cell-fate determination, directing the inappropriate formation of cartilage or bone, or both, in tissues such as skeletal muscle and adipose tissue. Specific gene mutations have been identified in two rare inherited disorders that are clinically characterized by extensive and progressive extraskeletal bone formation-fibrodysplasia ossificans progressiva and progressive osseous heteroplasia. In fibrodysplasia ossificans progressiva, activating mutations in activin receptor type-1, a bone morphogenetic protein type I receptor, induce heterotopic endochondral ossification, which results in the development of a functional bone organ system that includes skeletal-like bone and bone marrow. In progressive osseous heteroplasia, the heterotopic ossification leads to the formation of mainly intramembranous bone tissue in response to inactivating mutations in the GNAS gene. Patients with these diseases variably show malformation of normal skeletal elements, identifying the causative genes and their associated signaling pathways as key mediators of skeletal development in addition to regulating cell-fate decisions by adult stem cells. SN - 1759-4804 UR - https://www.unboundmedicine.com/medline/citation/20703219/Inherited_human_diseases_of_heterotopic_bone_formation_ L2 - http://dx.doi.org/10.1038/nrrheum.2010.122 DB - PRIME DP - Unbound Medicine ER -