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Dentistry Journal Apr 2023Collagen is the building block for the extracellular matrix in bone, teeth and other fibrous tissues. Osteogenesis imperfecta (OI), or brittle bone disease, is a... (Review)
Review
Collagen is the building block for the extracellular matrix in bone, teeth and other fibrous tissues. Osteogenesis imperfecta (OI), or brittle bone disease, is a heritable disorder that results from defective collagen synthesis or metabolism, resulting in bone fragility. The dental manifestation of OI is dentinogenesis imperfecta (DI), a genetic disorder that affects dentin structure and clinical appearance, with a characteristic feature of greyish-brown discolouration. The aim of this study was to conduct a systematic review to identify and/or define any ultrastructural changes in dentinal collagen in DI. Established databases were searched: Cochrane Library, OVID Embase, OVID Medline and PubMed/Medline. Search strategies included: Collagen Ultrastructure, DI and OI. Inclusion criteria were studies written in English, published after 1990, that examined human dental collagen of teeth affected by DI. A Cochrane data extraction form was modified and used for data collection. The final dataset included seventeen studies published from 1993 to 2021. The most prevalent findings on collagen in DI teeth were increased coarse collagen fibres and decreased fibre quantity. Additional findings included changes to fibre orientation (i.e., random to parallel) and differences to the fibre organisation (i.e., regular to irregular). Ultrastructural defects and anomalies included uncoiled collagen fibres and increased D-banding periodicity. Studies in collagen structure in DI reported changes to the surface topography, quantity, organisation and orientation of the fibres. Moreover, ultrastructural defects such as the packing/coiling and D-banding of the fibrils, as well as differences in the presence of other collagens are also noted. Taken together, this study provides an understanding of the changes in collagen and its impact on clinical translation, paving the way for innovative treatments in dental treatment.
PubMed: 37185473
DOI: 10.3390/dj11040095 -
Endocrine Journal Jul 2023Osteogenesis imperfecta (OI) is an inherited disease characterized by bone fragility due to impaired type I collagen. Although orthopedic management is improving, other... (Review)
Review
Osteogenesis imperfecta (OI) is an inherited disease characterized by bone fragility due to impaired type I collagen. Although orthopedic management is improving, other complications are poorly understood. We describe three patients with OI with unruptured intracranial aneurysm (IA) detected by magnetic resonance angiography (MRA) screening of 14 patients. Case 1 was a 73-year-old woman with type 1 OI with blue sclera, vertebral compression fractures, and impaired hearing. Lumbar spine bone mineral density (BMD) was preserved (young adult mean (YAM): 86%). MRA revealed an IA in the right internal carotid artery. Case 2 was a 43-year-old man with type 4 OI and leg-length discrepancy due to left femoral neck fracture. Lumbar spine BMD was decreased (YAM: 61%). MRA showed an IA in the left anterior cerebral artery. Case 3 was a 35-year-old woman with type 3 OI with blue sclera, dentinogenesis imperfecta, deformity of the long bones, and severe scoliosis. She had undergone spine surgery and needed wheelchair assistance. The YAM of the femoral neck BMD was 71%. MRA indicated an IA in the right posterior communicating artery. The prevalence of IA in our series of patients with OI was 21%, which is higher than the reported prevalence of unruptured IA in the Japanese general population (2.2%), suggesting that IA may be a complication of OI. Our literature review revealed no cases of OI with unruptured IA, but 11 cases of OI with subarachnoid hemorrhage. IA seems unrelated to OI type, sex, or age. We recommend MRA of adults with OI.
Topics: Male; Female; Young Adult; Humans; Aged; Adult; Osteogenesis Imperfecta; Intracranial Aneurysm; Fractures, Compression; Spinal Fractures; Collagen Type I; Bone Density
PubMed: 37164684
DOI: 10.1507/endocrj.EJ22-0620 -
Dentin defects caused by a Dspp frameshift mutation are associated with the activation of autophagy.Scientific Reports Apr 2023Dentin sialophosphoprotein (DSPP) is primarily expressed by differentiated odontoblasts (dentin-forming cells), and transiently expressed by presecretory ameloblasts...
Dentin sialophosphoprotein (DSPP) is primarily expressed by differentiated odontoblasts (dentin-forming cells), and transiently expressed by presecretory ameloblasts (enamel-forming cells). Disease-causing DSPP mutations predominantly fall into two categories: 5' mutations affecting targeting and trafficking, and 3' - 1 frameshift mutations converting the repetitive, hydrophilic, acidic C-terminal domain into a hydrophobic one. We characterized the dental phenotypes and investigated the pathological mechanisms of Dspp and Dspp mice that replicate the two categories of human DSPP mutations. In Dspp mice, dentin is less mineralized but contains dentinal tubules. Enamel mineral density is reduced. Intracellular accumulation and ER retention of DSPP is observed in odontoblasts and ameloblasts. In Dspp mice, a thin layer of reparative dentin lacking dentinal tubules is deposited. Odontoblasts show severe pathosis, including intracellular accumulation and ER retention of DSPP, strong ubiquitin and autophagy activity, ER-phagy, and sporadic apoptosis. Ultrastructurally, odontoblasts show extensive autophagic vacuoles, some of which contain fragmented ER. Enamel formation is comparable to wild type. These findings distinguish molecular mechanisms underlying the dental phenotypes of Dspp and Dspp mice and support the recently revised Shields classification of dentinogenesis imperfecta caused by DSPP mutations in humans. The Dspp mice may be valuable for the study of autophagy and ER-phagy.
Topics: Mice; Humans; Animals; Frameshift Mutation; Extracellular Matrix Proteins; Odontoblasts; Mutation; Phosphoproteins; Sialoglycoproteins; Dentin; Autophagy
PubMed: 37076504
DOI: 10.1038/s41598-023-33362-1 -
Orphanet Journal of Rare Diseases Feb 2023Osteogenesis imperfecta (OI) is a rare, connective tissue disorder characterised by bone fragility, resulting in recurrent fractures and skeletal deformities....
BACKGROUND
Osteogenesis imperfecta (OI) is a rare, connective tissue disorder characterised by bone fragility, resulting in recurrent fractures and skeletal deformities. Extra-skeletal manifestations include dentinogenesis imperfecta, hearing abnormalities and lung disease. These co-morbidities combined with recurrent fractures can exert a significant impact on health-related quality of life (HR-QOL). It is important to assess HR-QOL throughout adulthood because the prevalence of some OI-specific complications increases with age.
METHODS
PubMed, EMBASE and CENTRAL databases were searched on 2nd February 2022 to identify studies reporting quantitative assessments of HR-QOL in adults with OI. The primary endpoint was to determine the impact of an OI diagnosis on adult's HR-QOL. Secondary endpoints were to (i) examine how frequently various HR-QOL assessment tools were used (ii) identify differences in HR-QOL between OI types and (iii) investigate the determinants of HR-QOL in adults with OI. Search results were exported to Endnote where two reviewers independently conducted title/abstract and full-text reviews. Data from accepted studies were extracted into Microsoft Excel. A narrative synthesis was then undertaken.
RESULTS
The review identified 17 studies with a total of 1,648 adults. The Short Form-36 (SF-36) was the most frequently reported HR-QOL assessment tool and was used in nine studies. Physical HR-QOL was reduced in adults with OI. Physical component scores (PCS) or individual physical domains of the SF-36 were lower in eight of nine studies. Mental component scores (MCS) were preserved in all six studies, however individual mental health domains of the SF-36 were reduced in some studies. The prevalence of anxiety/depression was relatively low in adults with OI. Those with type III OI had lower physical and respiratory HR-QOL but preserved mental HR-QOL compared with type I. The prevalence of fatigue and pain was higher in adults with OI compared with reference populations. Age and cardio-pulmonary co-morbidities were associated with lower HR-QOL.
CONCLUSION
OI in adulthood has a wide-ranging negative impact on HR-QOL. Physical and respiratory HR-QOL were lower, while the prevalence of pain and fatigue were higher than in reference populations. Mental HR-QOL was relatively preserved, although some deficits were identified. Age and cardio-pulmonary co-morbidities were associated with lower HR-QOL.
Topics: Adult; Humans; Osteogenesis Imperfecta; Quality of Life; Pain; Fatigue; Prevalence
PubMed: 36814291
DOI: 10.1186/s13023-023-02643-3 -
Materia Socio-medica 2023Dental anomalies (DAs) represent a significant chapter in pediatric dentistry with a lot of practical relevance. Both primary and permanent dentitions may be affected.
BACKGROUND
Dental anomalies (DAs) represent a significant chapter in pediatric dentistry with a lot of practical relevance. Both primary and permanent dentitions may be affected.
OBJECTIVE
The main objective of our study was to evaluate, using digital panoramic radiographs, the prevalence, distribution, and patterns of DAs in a sample of Lebanese children aged between 8 and 15 years old.
METHODS
112 digital panoramic radiographs of patients aged between 8 and 15 years (60 males and 52 females) from the year 2017 till 2022 attending the department of Pediatric Dentistry and Dental Public Health at the Faculty of Dental Medicine at the Lebanese University were assessed for DAs of number (hypodontia, oligodontia, hyperdontia), of size (microdontia, macrodontia), of shape (fusion, gemination, dilaceration, taurodontism), of position (transposition, ectopia, impaction), and of structure (dentin dysplasia, amelogenesis imperfecta, dentinogenesis imperfecta). The data were analyzed statistically using Chi-square and Fisher's exact tests.
RESULTS
Out of 112 patient radiographs, 84 showed at least one DA, which suggests a very high prevalence (75%). Among them, 36.9% exhibited multiple types of anomalies. These 84 patients showed a total of 274 DAs, distributed equally among males and females.
CONCLUSION
Dentists should be alerted to the presence of DAs. Their high prevalence requires careful clinical and radiological examinations for early detection. Regular monitoring is mandatory and could guide preventive approaches to minimize associated dental complications.
PubMed: 38380282
DOI: 10.5455/msm.2023.35.319-324 -
Cureus Oct 2022Disturbances seen during tooth formation result in developmental dental anomalies presenting in the oral cavity. These anomalies manifest as discrepancies in the...
BACKGROUND
Disturbances seen during tooth formation result in developmental dental anomalies presenting in the oral cavity. These anomalies manifest as discrepancies in the number, color, size, and shape of the teeth. These dental anomalies can either be acquired, congenital, or developmental. Their early detection and management are necessary as they affect aesthetics and occlusion. The study had the aim of gauging the prevalence of developmental anomalies in the permanent dentition of Indian subjects.
METHODS
A total of 1192 participants recruited from the institute for study purposes, comprising males and females, were examined clinically and radiographically, and their dental casts were also evaluated. These subjects were assessed for anomalies in position, structure, number, and/or shape. Anomalies in the position include transmigration, transportation, and/or ectopic position; anomalies in the structure, including dentinogenesis imperfecta or amelogenesis imperfecta; anomalies in number, including hyperdontia or hypodontia; and anomalies in shape, including peg laterals, taurodontism, fusion, dens evaginatus, talon cusp, and/or microdontia.
RESULTS
A statistically significant difference was seen in unilateral microdontia and dentinogenesis imperfecta between males and females, with attained p-values of 0.003 and 0.06, respectively. The results of the present study showed that 9.89% (n = 118) study subjects, whereas 1% (n = 12) study subjects had two dental anomalies in their permanent dentitions, with no subject presenting more than two dental anomalies, showing that various dental anomalies have a low prevalence in the Indian population.
CONCLUSION
The present study has led to the conclusion that the prevalence of dental anomalies is low in Indian subjects. However, these anomalies should be detected and treated early to prevent them from causing further complications.
PubMed: 36397922
DOI: 10.7759/cureus.30156 -
Frontiers in Surgery 2022Osteogenesis imperfecta (OI) is a rare heterogeneous genetic disorder commonly autosomal dominant with variants in the COL1A1 and COL1A2 genes. It is characterized by...
BACKGROUND
Osteogenesis imperfecta (OI) is a rare heterogeneous genetic disorder commonly autosomal dominant with variants in the COL1A1 and COL1A2 genes. It is characterized by bone fragility and deformity, recurrent fractures, blue sclera, dentinogenesis imperfecta, short stature, and progressive deafness.
CASE PRESENTATION
We present a novel splicing mutation in the COL1A1 gene (c.2398-1G > C) in a 6-year-old Ecuadorian girl with fractures after light pressure and blue sclera. We identified the pathogenic variant, performed a literature review of splice variants, and recognized their location in the COL1A1 functional domains.
CONCLUSION
We describe the first clinical description of a patient with OI type 1 caused by a splice variant in intron 34 of COL1A1 gene and identify that most of them are localized in the triple-helical region domain. We suggest that the splice variant in signal peptide, von Willebrand factor type C, and nonhelical regions maintain their functionality or that individuals affected with severe cases die early in development and are not reported.
PubMed: 36338653
DOI: 10.3389/fsurg.2022.986372 -
Journal of Oral Biology and... 2022DSPP is known to be important in the formation of dentin. In DSPP's absence, a severely hypomineralized dentin is formed, in a condition known as dentinogenesis...
DSPP is known to be important in the formation of dentin. In DSPP's absence, a severely hypomineralized dentin is formed, in a condition known as dentinogenesis imperfecta (DGI). DSPP has recently been found in several different tissues, including the mandibular condylar cartilage and craniofacial skeleton. However, there is limited literature on the role of DSPP in these tissues. Therefore, the objective of the present study was to investigate the role of DSPP in craniofacial development. Two mice strains, DSPP knockout and C57BL/6J wild type, were compared at 1, 3, and 6-months of age. Skulls and condyles were investigated through morphological and histological analyses. Cell culture was also conducted to investigate the potential effects of DSPP absence in osteoblasts from the calvaria. Mineralization defects were noticed in the structures of skulls and MCC, with the most significant impact at 1 month of age. DSPP is an essential protein for the normal mineralization of craniofacial tissues.
PubMed: 36062256
DOI: 10.1016/j.jobcr.2022.08.010 -
Healthcare (Basel, Switzerland) Aug 2022Dentinogenesis imperfecta type I (DGI-I) is a hereditary alteration of dentin associated with osteogenesis imperfecta (OI). To describe and study the morphological...
Dentinogenesis imperfecta type I (DGI-I) is a hereditary alteration of dentin associated with osteogenesis imperfecta (OI). To describe and study the morphological characteristics of DGI-I with scanning electron microscopy (SEM). Twenty-five teeth from 17 individuals diagnosed with OI and 30 control samples were studied with SEM at the level of the enamel, dentin-enamel junction (DEJ) and four levels of the dentin, studying its relationship with clinical-radiographic alterations. The variables were analysed using Fisher's exact test, with a confidence level of 95% and asymptotic significance. OI teeth showed alterations in the prismatic structure in 56%, interruption of the union in the enamel and dentin in 64% and alterations in the tubular structure in all of the cases. There is a relationship between the severity of OI and the morphological alteration of the dentin in the superficial ( = 0.019) and pulpar dentin ( 0.004) regions. : Morphological alterations of the tooth structure are found in OI samples in the enamel, DEJ and dentin in all teeth regardless of the presence of clinical-radiographic alterations. Dentin structural anomalies and clinical dental alterations were observed more frequently in samples from subjects with a more severe phenotype of OI.
PubMed: 36011110
DOI: 10.3390/healthcare10081453