Article ; Online: Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types.
2021 Volume 43, Issue 1, Page(s) 61–90
Abstract: ... involved in their pathophysiology. There is a special emphasis on mutations in type I procollagen C ...
| Abstract | Osteogenesis imperfecta (OI) is a phenotypically and genetically heterogeneous skeletal dysplasia characterized by bone fragility, growth deficiency, and skeletal deformity. Previously known to be caused by defects in type I collagen, the major protein of extracellular matrix, it is now also understood to be a collagen-related disorder caused by defects in collagen folding, posttranslational modification and processing, bone mineralization, and osteoblast differentiation, with inheritance of OI types spanning autosomal dominant and recessive as well as X-linked recessive. This review provides the latest updates on OI, encompassing both classical OI and rare forms, their mechanism, and the signaling pathways involved in their pathophysiology. There is a special emphasis on mutations in type I procollagen C-propeptide structure and processing, the later causing OI with strikingly high bone mass. Types V and VI OI, while notably different, are shown to be interrelated by the interferon-induced transmembrane protein 5 p.S40L mutation that reveals the connection between the bone-restricted interferon-induced transmembrane protein-like protein and pigment epithelium-derived factor pathways. The function of regulated intramembrane proteolysis has been extended beyond cholesterol metabolism to bone formation by defects in regulated membrane proteolysis components site-2 protease and old astrocyte specifically induced-substance. Several recently proposed candidate genes for new types of OI are also presented. Discoveries of new OI genes add complexity to already-challenging OI management; current and potential approaches are summarized. |
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| MeSH term(s) | Collagen/genetics ; Collagen Type I/genetics ; Collagen Type I/metabolism ; Humans ; Interferons/genetics ; Mutation ; Osteogenesis Imperfecta/genetics ; Osteogenesis Imperfecta/metabolism ; Signal Transduction |
| Chemical Substances | Collagen Type I ; Collagen (9007-34-5) ; Interferons (9008-11-1) |
| Language | English |
| Publishing date | 2021-05-17 |
| Publishing country | United States |
| Document type | Journal Article ; Research Support, N.I.H., Intramural ; Review |
| ZDB-ID | 603096-8 |
| ISSN | 1945-7189 ; 0163-769X |
| ISSN (online) | 1945-7189 |
| ISSN | 0163-769X |
| DOI | 10.1210/endrev/bnab017 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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