New genes in bone development: what's new in osteogenesis imperfecta
- PMID: 23771926
- PMCID: PMC3733862
- DOI: 10.1210/jc.2013-1505
New genes in bone development: what's new in osteogenesis imperfecta
Abstract
Osteogenesis imperfecta (OI) is a heritable bone dysplasia characterized by bone fragility and deformity and growth deficiency. Most cases of OI (classical types) have autosomal dominant inheritance and are caused by mutations in the type I collagen genes. During the past several years, a number of noncollagenous genes whose protein products interact with collagen have been identified as the cause(s) of rare forms of OI. This has led to a paradigm shift for OI as a collagen-related condition. The majority of the non-classical OI types have autosomal recessive inheritance and null mutations in their respective genes. The exception is a unique dominant defect in IFITM5, which encodes Bril and leads to hypertrophic callus and interosseous membrane ossification. Three recessive OI types arise from defects in any of the components of the collagen prolyl 3-hydroxylation complex (CRTAP, P3H1, CyPB), which modifies the collagen α1(I)Pro986 residue. Complex dysfunction leads to delayed folding of the procollagen triple helix and increased helical modification. Next, defects in collagen chaperones, HSP47 and FKBP65, lead to improper procollagen folding and deficient collagen cross-linking in matrix, respectively. A form of OI with a mineralization defect is caused by mutations in SERPINF1, whose protein product, PEDF, is a well-known antiangiogenesis factor. Defects in the C-propeptide cleavage enzyme, BMP1, also cause recessive OI. Additional genes, including SP7 and TMEM38B, have been implicated in recessive OI but are as yet unclassified. Elucidating the mechanistic pathways common to dominant and recessive OI may lead to novel therapeutic approaches to improve clinical manifestations.
Figures
Similar articles
-
Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.Curr Opin Pediatr. 2014 Aug;26(4):500-7. doi: 10.1097/MOP.0000000000000117. Curr Opin Pediatr. 2014. PMID: 25007323 Free PMC article. Review.
-
[Mutations of noncollagen genes in osteogenesis imperfecta--implications of the gene products in collagen biosynthesis and pathogenesis of disease].Postepy Hig Med Dosw (Online). 2012 Jun 14;66:359-71. doi: 10.5604/17322693.1000336. Postepy Hig Med Dosw (Online). 2012. PMID: 22706122 Review. Polish.
-
Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.Cell Tissue Res. 2010 Jan;339(1):59-70. doi: 10.1007/s00441-009-0872-0. Epub 2009 Oct 28. Cell Tissue Res. 2010. PMID: 19862557 Free PMC article. Review.
-
Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.Hum Mol Genet. 2010 Jan 15;19(2):223-34. doi: 10.1093/hmg/ddp481. Epub 2009 Oct 21. Hum Mol Genet. 2010. PMID: 19846465 Free PMC article.
-
Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types.Endocr Rev. 2022 Jan 12;43(1):61-90. doi: 10.1210/endrev/bnab017. Endocr Rev. 2022. PMID: 34007986 Free PMC article. Review.
Cited by
-
RNA-Binding Proteins as Novel Effectors in Osteoblasts and Osteoclasts: A Systems Biology Approach to Dissect the Transcriptional Landscape.Int J Mol Sci. 2024 Sep 27;25(19):10417. doi: 10.3390/ijms251910417. Int J Mol Sci. 2024. PMID: 39408753 Free PMC article.
-
TMEM38B Gene Mutation Associated With Osteogenesis Imperfecta.Cureus. 2024 Sep 9;16(9):e69021. doi: 10.7759/cureus.69021. eCollection 2024 Sep. Cureus. 2024. PMID: 39385871 Free PMC article.
-
Root resorption of primary molars and dental development of premolars in children with Osteogenesis Imperfecta medicated with bisphosphonates, grouped according to age and gender.BMC Oral Health. 2024 Jul 28;24(1):857. doi: 10.1186/s12903-024-04557-3. BMC Oral Health. 2024. PMID: 39069613 Free PMC article.
-
Rare coexistence of hypopituitarism with osteogenesis imperfecta - A double-trouble for bone.Bone Rep. 2024 Apr 23;21:101768. doi: 10.1016/j.bonr.2024.101768. eCollection 2024 Jun. Bone Rep. 2024. PMID: 38706521 Free PMC article.
-
Involvement of kinesins in skeletal dysplasia: a review.Am J Physiol Cell Physiol. 2024 Aug 1;327(2):C278-C290. doi: 10.1152/ajpcell.00613.2023. Epub 2024 Apr 22. Am J Physiol Cell Physiol. 2024. PMID: 38646780 Free PMC article. Review.
References
-
- Glorieux FH, Rauch F, Plotkin H, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res. 2000;15(9):1650–1658 - PubMed
-
- Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ, Travers R. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res. 2002;17(1):30–38 - PubMed
-
- Van der Hoeve J, de Kleyn A. Blaue Scleren, Knochenbrüchigkeit und Schwerhörigkeit. Arch Ophthalmol. 1918;95:81–93
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Miscellaneous
