Mild forms of dentinogenesis imperfecta in association with osteogenesis imperfecta as characterized by light and transmission electron microscopy

Waltimo, Janna; Ojanotko-Harri, Anita; Lukinmaa, Pirjo‐Liisa

doi:10.1111/j.1600-0714.1996.tb01381.x

Cited by 46 publications

(58 citation statements)

References 23 publications

(17 reference statements)

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“…Differentiation of dental pulp into collagen producing odontoblast-like cells has been suggested in in vitro and ex vivo culture systems by addition of exogenous growth factors, either alone or in combination, to understand the development of odontoblasts (10). Increased levels of collagen I and III and their abnormal accumulation in the pulp seen in dspp/TGF-␤1 transgenic mice are reminiscent of similar changes observed in dentinogenesis imperfecta and dentin dysplasia (27,28).…”

Section: Discussionmentioning

confidence: 88%

“…am, ameloblasts; de, dentin; od, odontoblasts; p, pulp. expression of the dspp gene that has been implicated in the etiology of the DGI II subtype (28). Northern analysis of tooth RNA using dspp exon-IV DNA as a probe revealed a significant reduction in the levels of dspp transcripts in dTGF-␤1 mice (Fig.…”

Section: Fig 4 Immunohistochemical Analysis Of Tgf-␤1 and Collagenomentioning

confidence: 99%

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Reduced Expression of Dentin Sialophosphoprotein Is Associated with Dysplastic Dentin in Mice Overexpressing Transforming Growth Factor-β1 in Teeth

Thyagarajan

Sreenath

Cho

et al. 2001

Journal of Biological Chemistry

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Transforming growth factor (TGF)-␤1 is expressed in developing tooth from the initiation stage through adulthood. Odontoblast-specific expression of TGF-␤1 in the tooth continues throughout life; however, the precise biological functions of this growth factor in the odontoblasts are not clearly understood. Herein, we describe the generation of transgenic mice that overexpress active TGF-␤1 predominantly in the odontoblasts. Teeth of these mice show a significant reduction in the tooth mineralization, defective dentin formation, and a relatively high branching of dentinal tubules. Dentin extracellular matrix components such as type I and III collagens are increased and deposited abnormally in the dental pulp, similar to the hereditary human tooth disorders such as dentin dysplasia and dentinogenesis imperfecta. Calcium, one of the crucial inorganic components of mineralization, is also apparently increased in the transgenic mouse teeth. Most importantly, the expression of dentin sialophosphoprotein (dspp), a candidate gene implicated in dentinogenesis imperfecta II (MIM 125420), is significantly down-regulated in the transgenic teeth. Our results provide in vivo evidence suggesting that TGF-␤1 mediated expression of dspp is crucial for dentin mineralization. These findings also provide for the first time a direct experimental evidence indicating that decreased dspp gene expression along with the other cellular changes in odontoblasts may result in human hereditary dental disorders like dentinogenesis imperfecta II (MIM 125420) and dentin dysplasia (MIM 125400 and 125420).Mammalian development is a complex and highly orchestrated process that involves intricate cross-talk between growth factors and other regulatory molecules. These molecules interact with each other to induce specific molecular and cellular changes leading to organogenesis. Interactions between epithelium and mesenchyme are particularly crucial during the initiation of development of key organs such as teeth, skin, hair, mammary gland, and prostate (1). Tooth development is initiated by epithelial-mesenchymal interactions in the first branchial arch, and several transcription factors and growth factors are known to be expressed by dentin extracellular matrix (DECM)-producing 1 odontoblasts and enamel-producing ameloblasts during tooth development (2-5). Transforming growth factor-␤1 (TGF-␤1), a prototype of the TGF-␤ superfamily, is a multi-functional growth factor expressed in a wide variety of developing tissues from the early stages. The regulation of cell proliferation, differentiation, embryonic development, and apoptosis by TGF-␤1 is well established (6 -8). During mouse tooth development, TGF-␤1 is expressed initially in the oral epithelium at embryonic day 13, and later its expression extends into the mesenchymal compartment and then gets restricted to the ectomesenchymal layer (odontoblasts). The odontoblast-restricted expression of TGF-␤1 persists throughout life in the mice (9). Odontoblasts produce DECM from embryonic day 16 and subseq...

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Section: Discussionmentioning

confidence: 88%

Section: Fig 4 Immunohistochemical Analysis Of Tgf-␤1 and Collagenomentioning

confidence: 99%

Reduced Expression of Dentin Sialophosphoprotein Is Associated with Dysplastic Dentin in Mice Overexpressing Transforming Growth Factor-β1 in Teeth

Thyagarajan

Sreenath

Cho

et al. 2001

Journal of Biological Chemistry

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“…A clinical geneticist established the diagnosis and classification of OI, based on the fracture history, clinical and radiographic findings, and family history. Dental manifestations in OI form a continuum from normal dentin to severe DI, and visual evaluation does not reveal the changes that can be detected by Xray or light and transmission electron microscopy [Waltimo et al, 1996]. Therefore, subclassification of OI types I and IV into A and B on the basis of the presence or absence of DI was not used in this study.…”

Section: Materials and Methods Patient Populationmentioning

confidence: 99%

“…It is characterized by a variable propensity to skeletal fractures following mild trauma, and to secondary deformities in the extremities, spine, and skull, and to short stature [Byers and Cole, 2002]. Progressive hearing loss, dentinogenesis imperfecta (DI), blue scleras, joint hypermobility, and easy bruising are also common [Sillence, 1988;Waltimo et al, 1996;Byers and Cole, 2002]. The minimum prevalence of OI is 1 in 10,000 to 1 in 30,000 [Pedersen, 1984;Byers and Cole, 2002].…”

Section: Introductionmentioning

confidence: 99%

Lack of correlation between the type ofCOL1A1orCOL1A2mutation and hearing loss in osteogenesis imperfecta patients

et al. 2004

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Osteogenesis imperfecta (OI) is caused by mutations in COL1A1 and COL1A2 that code for the alpha1 and alpha2 chains of type I collagen. Phenotypes correlate with the mutation types in that COL1A1 null mutations lead to OI type I, and structural mutations in alpha1(I) or alpha2(I) lead to more severe OI types (II-IV). However, correlative analysis between mutation types and OI associated hearing loss has not been previously performed. A total of 54 Finnish OI patients with previously diagnosed hearing loss or age 35 or more years were analyzed here for mutations in COL1A1 or COL1A2. Altogether 49 mutations were identified, of which 41 were novel. The 49 mutations represented the molecular genetic background of 41.1% of the Finnish OI population. A total of 38 mutations were in COL1A1 and 11 were in COL1A2. Of these, 16 were glycine substitutions and 16 were splicing mutations in alpha1(I) or alpha2(I). In addition, 17 null allele mutations were detected in COL1A1. A total of 32 patients (65.3%) with a mutation had hearing loss. That is slightly more than in our previous population study on Finnish adults with OI (57.9%). The association between the mutation types and OI type was statistically evident. Patients with COL1A1 mutations more frequently had blue scleras than those with COL1A2 mutations. In addition, patients with COL1A2 mutations tended to be shorter than those with COL1A1 mutations. However, no correlation was found between the mutated gene or mutation type and hearing pattern. These results suggest that the basis of hearing loss in OI is complex, and it is a result of multifactorial, still unknown genetic effects.

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“…The abnormality in collagen fibers was reported to be the major cause for the presence of incremental lines and sudden structural changes characterized by lamellated calcification of dentin matrix [3][4][5][6][7][8] .…”

Section: Introductionmentioning

confidence: 99%

Histological Analysis of Dentinogenesis Imperfecta in Slc39a13/Zip13 Knockout Mice

Munemasa

Idaira

Fukada

et al. 2014

J. Hard Tissue Biology.

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This study focused on the abnormality of dentin matrix to clarify the pathogenesis of human dentinogenesis imperfecta (DI). Dentin matrix of mandibular molars from wild type (Zip13+/+) and Slc39a/ Zip13 knockout (KO) mice were examined histologically. Hematoxylin and eosin, as well as silver staining, were used for light microscopy. Samples were also observed under backscattered and transmission electron microscopy. Immunohistochemistry using type I collagen was also carried out. Results showed that Zip13-KO mice exhibited 1) lamellated dentin matrix with accentuated incremental lines under the light microscope, 2) abnormal collagen fibers and round shape collagen molecules in transmission electron microscope, and 3) unusual immunoreaction to collagen type I. The similarity in the histological features of dentin in Zip13-KO mice to human DI indicates that Zip13-KO mice may be used as models for investigating the mechanism of human DI.

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Mild forms of dentinogenesis imperfecta in association with osteogenesis imperfecta as characterized by light and transmission electron microscopy

Cited by 46 publications

References 23 publications

Reduced Expression of Dentin Sialophosphoprotein Is Associated with Dysplastic Dentin in Mice Overexpressing Transforming Growth Factor-β1 in Teeth

Reduced Expression of Dentin Sialophosphoprotein Is Associated with Dysplastic Dentin in Mice Overexpressing Transforming Growth Factor-β1 in Teeth

Lack of correlation between the type ofCOL1A1orCOL1A2mutation and hearing loss in osteogenesis imperfecta patients

Histological Analysis of Dentinogenesis Imperfecta in Slc39a13/Zip13 Knockout Mice

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