New Perspectives on Osteogenesis Imperfecta

By A. Forlino, W. A. Cabral, Aileen M. Barnes, J. Marini. Nature Reviews Endocrinology, 2011

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A new paradigm has emerged for osteogenesis imperfecta as a collagen-related disorder. The more prevalent autosomal dominant forms of osteogenesis imperfecta are caused by primary defects in type I collagen, whereas autosomal recessive forms are caused by deficiency of proteins which interact with type I procollagen for post-translational modification and/or folding. Factors that contribute to the mechanism of dominant osteogenesis imperfecta include intracellular stress, disruption of interactions between collagen and noncollagenous proteins, compromised matrix structure, abnormal cell–cell and cell–matrix interactions and tissue mineralization. Recessive osteogenesis imperfecta is caused by deficiency of any of the three components of the collagen prolyl 3-hydroxylation complex. Absence of 3-hydroxylation is associated with increased modification of the collagen helix, consistent with delayed collagen folding. Other causes of recessive osteogenesis imperfecta include deficiency of the collagen chaperones FKBP10 or Serpin H1. Murine models are crucial to uncovering the common pathways in dominant and recessive osteogenesis imperfecta bone dysplasia. Clinical management of osteogenesis imperfecta is multidisciplinary, encompassing substantial progress in physical rehabilitation and surgical procedures, management of hearing, dental and pulmonary abnormalities, as well as drugs, such as bisphosphonates and recombinant human growth hormone. Novel treatments using cell therapy or new drug regimens hold promise for the future.

Subfields: Epidemiology, Genetics, Rheumatology

View Paper: https://www.semanticscholar.org/paper/5976f66f26bbbcf2fe654c062676c9c58b253356

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Citations in the corpus

• Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment (2014, background): “Nomenclature revisions have accordingly seen thenumbers ofOI typesbeing increasedup to OI type XIV [Forlino et al., 2011] with the discovery of each new genetic defect.”