Dental properties, ultrastructure, and pulp cells associated with a novel <i><scp>DSPP</scp></i> mutation

Porntaveetus, Thantrira; Osathanon, Thanaphum; Nowwarote, Nunthawan; Pavasant, Prasit; Srichomthong, Chalurmpon; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk

doi:10.1111/odi.12801

Cited by 23 publications

(18 citation statements)

References 38 publications

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“…To date, most histomorphological studies have focused on the effects of DGI Type II on dentin phenotypes (2,3,7,18) but fail to connect other distinguishing features of the disease, such as the fact that the pulp is typically obliterated (3,7,12,(18)(19)(20)(21)(22). Why this is the case is not known, but one theory suggests that the failure of the enamel to remain attached to the dentin results in trauma to the pulp, and the tooth responds by secreting more dentin (23,24).…”

Section: Introductionmentioning

confidence: 99%

A novel hypothesis based on clinical, radiological, and histological data to explain the dentinogenesis imperfecta type II phenotype

Türkkahraman

Galindo

Tulu

et al. 2019

Connective Tissue Research

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The aim of this study was to explore whether dentinogenesis imperfecta (DGI)related aberrations are detectable in odontogenic tissues.Materials and Methods: Morphological and histological analyses were carried out on 3 teeth (two maxillary 1 st molars, one maxillary central incisor) extracted from a patient with DGI Type II. A maxillary 2 nd molar teeth extracted from a healthy patient was used as control. A micro-computed tomographic (μCT) data-acquisition system was used to scan and reconstruct samples.Pentachrome and picrosirius red histologic stains were used to analyze odontogenic tissues and their collagenous matrices.Results: Our findings corroborate DGI effects on molar and incisor root elongation, and the hypomineralized state of DGI dentin. In addition to these findings, we discovered changes to the DGI pulp cavity: Reactionary dentin formation, which we theorize is exacerbated by the early loss of enamel, nearly obliterated an acellular but still-vascularized DGI pulp cavity. We also discovered an accumulation of lamellated cellular cementum at the root apices, which we hypothesize compensates for the severe and rapid attrition of the DGI tooth.Conclusions: Based on imaging and histological data, we propose a novel hypothesis to explain the complex dental phenotypes observed in patients with DGI Type II.

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Section: Introductionmentioning

confidence: 99%

A novel hypothesis based on clinical, radiological, and histological data to explain the dentinogenesis imperfecta type II phenotype

Türkkahraman

Galindo

Tulu

et al. 2019

Connective Tissue Research

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“…The teeth often undergo rapid and severe attrition in DGI patients associated with DSPP mutations. It is generally believed that enamel readily chips off from the underlying defective dentin and/or abnormal DEJ after tooth eruption, thereby exposing the softer and malformed dentin to rapid attrition (Wright and Gantt, 1985;Kim et al, 2004;MacDougall et al, 2006;Hart and Hart, 2007;Kida et al, 2009;Min et al, 2014;Porntaveetus et al, 2018). However, it has also become evident that in some cases, the enamel itself may have intrinsic developmental defects (Lee et al, 2011;Wang et al, 2011;Bloch-Zupan et al, 2016;Taleb et al, 2018), which may be a direct contributing factor to rapid tooth wear observed in DGI patients.…”

Section: Discussionmentioning

confidence: 99%

Enamel Defects Associated With Dentin Sialophosphoprotein Mutation in Mice

Liang

Zhang

et al. 2021

Front. Physiol.

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Dentin sialophosphoprotein (DSPP) is an extracellular matrix protein that is highly expressed in odontoblasts, but only transiently expressed in presecretory ameloblasts during tooth development. We previously generated a knockin mouse model expressing a mouse equivalent (DSPP, p.P19L) of human mutant DSPP (p.P17L; referred to as “DsppP19L/+”), and reported that DsppP19L/+ and DsppP19L/P19L mice manifested a dentin phenotype resembling human dentinogenesis imperfecta (DGI). In this study, we analyzed pathogenic effects of mutant P19L-DSPP on enamel development in DsppP19L/+ and DsppP19L/P19L mice. Micro-Computed Tomography (μCT) analyses of 7-week-old mouse mandibular incisors showed that DsppP19L/P19L mice had significantly decreased enamel volume and/or enamel density at different stages of amelogenesis examined. Acid-etched scanning electron microscopy (SEM) analyses of mouse incisors demonstrated that, at the mid-late maturation stage of amelogenesis, the enamel of wild-type mice already had apparent decussating pattern of enamel rods, whereas only minute particulates were found in DsppP19L/+ mice, and no discernible structures in DsppP19L/P19L mouse enamel. However, by the time that incisor enamel was about to erupt into oral cavity, distinct decussating enamel rods were evident in DsppP19L/+ mice, but only poorly-defined enamel rods were revealed in DsppP19L/P19L mice. Moreover, μCT analyses of the mandibular first molars showed that DsppP19L/+ and DsppP19L/P19L mice had a significant reduction in enamel volume and enamel density at the ages of 2, 3, and 24weeks after birth. Backscattered and acid-etched SEM analyses revealed that while 3-week-old DsppP19L/+ mice had similar pattern of enamel rods in the mandibular first molars as age-matched wild-type mice, no distinct enamel rods were observed in DsppP19L/P19L mice. Yet neither DsppP19L/+ nor DsppP19L/P19L mice showed well-defined enamel rods in the mandibular first molars by the age of 24weeks, as judged by backscattered and acid-etched SEM. In situ hybridization showed that DSPP mRNA level was markedly reduced in the presecretory ameloblasts, but immunohistochemistry revealed that DSP/DSPP immunostaining signals were much stronger within the presecretory ameloblasts in Dspp mutant mice than in wild-type mice. These results suggest that mutant P19L-DSPP protein caused developmental enamel defects in mice, which may be associated with intracellular retention of mutant DSPP in the presecretory ameloblasts.

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“…The exfoliated lower right central incisor of the proband was investigated as previously described 11 . Briefly, tooth color was measured as L*a*b* scale by ShadeEye-NCC ® (Shofu Inc., Japan).…”

Section: Methodsmentioning

confidence: 99%

A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly

et al. 2019

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Osteogenesis imperfecta (OI) is mainly characterized by bone fragility and Ehlers-Danlos syndrome (EDS) by connective tissue defects. Mutations in COL1A1 or COL1A2 can lead to both syndromes. OI/EDS overlap syndrome is mostly caused by helical mutations near the amino-proteinase cleavage site of type I procollagen. In this study, we identified a Thai patient having OI type III, EDS, brachydactyly, and dentinogenesis imperfecta. His dentition showed delayed eruption, early exfoliation, and severe malocclusion. For the first time, ultrastructural analysis of the tooth affected with OI/EDS showed that the tooth had enamel inversion, bone-like dentin, loss of dentinal tubules, and reduction in hardness and elasticity, suggesting severe developmental disturbance. These severe dental defects have never been reported in OI or EDS. Exome sequencing identified a novel de novo heterozygous glycine substitution, c.3296G > A, p.Gly1099Glu, in exon 49 of COL1A2 . Three patients with mutations in the exon 49 of COL1A2 were previously reported to have OI with brachydactyly and intracranial hemorrhage. Notably, two of these three patients did not show hyperextensible joints and hypermobile skin, while our patient at the age of 5 years had not developed intracranial hemorrhage. Here, we demonstrate that the novel glycine substitution in the carboxyl region of alpha2(I) collagen triple helix leads to OI/EDS with brachydactyly and severe tooth defects, expanding the genotypic and phenotypic spectra of OI/EDS overlap syndrome.

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Dental properties, ultrastructure, and pulp cells associated with a novel DSPP mutation

Cited by 23 publications

References 38 publications

A novel hypothesis based on clinical, radiological, and histological data to explain the dentinogenesis imperfecta type II phenotype

A novel hypothesis based on clinical, radiological, and histological data to explain the dentinogenesis imperfecta type II phenotype

Enamel Defects Associated With Dentin Sialophosphoprotein Mutation in Mice

A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly

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