Extra-Skeletal Manifestations in Osteogenesis Imperfecta Mouse Models.

Publisher: Springer Verlag Country of Publication: United States NLM ID: 7905481 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0827 (Electronic) Linking ISSN: 0171967X NLM ISO Abbreviation: Calcif Tissue Int Subsets: MEDLINE

Publication: New York Ny : Springer Verlag
Original Publication: Berlin, New York, Springer International.

Osteogenesis Imperfecta*/genetics ; Osteogenesis Imperfecta*/pathology ; Osteogenesis Imperfecta*/complications ; Disease Models, Animal*; Animals ; Mice ; Humans ; Collagen Type I/genetics ; Collagen Type I/metabolism

Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder of skeletal fragility with an incidence of roughly 1:15,000. Approximately 85% of the pathogenic variants responsible for OI are in the type I collagen genes, COL1A1 and COL1A2, with the remaining pathogenic OI variants spanning at least 20 additional genetic loci that often involve type I collagen post-translational modification, folding, and intracellular transport as well as matrix incorporation and mineralization. In addition to being the most abundant collagen in the body, type I collagen is an important structural and extracellular matrix signaling molecule in multiple organ systems and tissues. Thus, OI disease-causing variants result not only in skeletal fragility, decreased bone mineral density (BMD), kyphoscoliosis, and short stature, but can also result in hearing loss, dentinogenesis imperfecta, blue gray sclera, cardiopulmonary abnormalities, and muscle weakness. The extensive genetic and clinical heterogeneity in OI has necessitated the generation of multiple mouse models, the growing awareness of non-skeletal organ and tissue involvement, and OI being more broadly recognized as a type I collagenopathy.This has driven the investigation of mutation-specific skeletal and extra-skeletal manifestations and broadened the search of potential mechanistic therapeutic strategies. The purpose of this review is to outline several of the extra-skeletal manifestations that have recently been characterized through the use of genetically and phenotypically heterogeneous mouse models of osteogenesis imperfecta, demonstrating the significant potential impact of OI disease-causing variants as a collagenopathy (affecting multiple organ systems and tissues), and its implications to overall health.
Competing Interests: Declarations. Conflicts of interest: Tara K. Crawford, Brittany N. Lafaver, and Charlotte L. Phillips have declared no conflict of interests.
(© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

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NIH T32 Fellowship T32GM135744 United States GM NIGMS NIH HHS; NIH T32 Fellowship T32GM135744 United States GM NIGMS NIH HHS; NIH/NICHD -R56HD110848 National Institute of Child Health and Development

Keywords: Cardiac; Collagen; Extra-skeletal; Mouse models; Muscle; Osteogenesis imperfecta

0 (Collagen Type I)

Date Created: 20240419 Date Completed: 20241129 Latest Revision: 20241129

20241202

10.1007/s00223-024-01213-4

38641703