-
World Journal of Clinical Cases Jan 2015Superficial stains and irregularities of the enamel are generally what prompt patients to seek dental intervention to improve their smile. These stains or defects may be... (Review)
Review
Superficial stains and irregularities of the enamel are generally what prompt patients to seek dental intervention to improve their smile. These stains or defects may be due to hypoplasia, amelogenesis imperfecta, mineralized white spots, or fluorosis, for which enamel microabrasion is primarily indicated. Enamel microabrasion involves the use of acidic and abrasive agents, such as with 37% phosphoric acid and pumice or 6% hydrochloric acid and silica, applied to the altered enamel surface with mechanical pressure from a rubber cup coupled to a rotatory mandrel of a low-rotation micromotor. If necessary, this treatment can be safely combined with bleaching for better esthetic results. Recent studies show that microabrasion is a conservative treatment when the enamel wear is minimal and clinically imperceptible. The most important factor contributing to the success of enamel microabrasion is the depth of the defect, as deeper, opaque stains, such as those resulting from hypoplasia, cannot be resolved with microabrasion, and require a restorative approach. Surface enamel alterations that result from microabrasion, such as roughness and microhardness, are easily restored by saliva. Clinical studies support the efficacy and longevity of this safe and minimally invasive treatment. The present article presents the clinical and scientific aspects concerning the microabrasion technique, and discusses the indications for and effects of the treatment, including recent works describing microscopic and clinical evaluations.
PubMed: 25610848
DOI: 10.12998/wjcc.v3.i1.34 -
PloS One 2017Amelogenesis imperfecta is a group of disorders causing abnormalities in enamel formation in various phenotypes. Many mutations in the FAM83H gene have been identified...
Amelogenesis imperfecta is a group of disorders causing abnormalities in enamel formation in various phenotypes. Many mutations in the FAM83H gene have been identified to result in autosomal dominant hypocalcified amelogenesis imperfecta in different populations. However, the structure and function of FAM83H and its pathological mechanism have yet to be further explored. Evolutionary analysis is an alternative for revealing residues or motifs that are important for protein function. In the present study, we chose 50 vertebrate species in public databases representative of approximately 230 million years of evolution, including 1 amphibian, 2 fishes, 7 sauropsidas and 40 mammals, and we performed evolutionary analysis on the FAM83H protein. By sequence alignment, conserved residues and motifs were indicated, and the loss of important residues and motifs of five special species (Malayan pangolin, platypus, minke whale, nine-banded armadillo and aardvark) was discovered. A phylogenetic time tree showed the FAM83H divergent process. Positive selection sites in the C-terminus suggested that the C-terminus of FAM83H played certain adaptive roles during evolution. The results confirmed some important motifs reported in previous findings and identified some new highly conserved residues and motifs that need further investigation. The results suggest that the C-terminus of FAM83H contain key conserved regions critical to enamel formation and calcification.
Topics: Amelogenesis Imperfecta; Amino Acid Motifs; Amphibians; Animals; Biological Evolution; Conserved Sequence; Dental Enamel; Fishes; Gene Expression; Humans; Mammals; Mutation; Phylogeny; Proteins; Reptiles; Sequence Alignment; Sequence Homology, Amino Acid
PubMed: 28683132
DOI: 10.1371/journal.pone.0180360 -
Frontiers in Endocrinology 2021Most cells use calcium (Ca) as a second messenger to convey signals that affect a multitude of biological processes. The ability of Ca to bind to proteins to alter their... (Review)
Review
Most cells use calcium (Ca) as a second messenger to convey signals that affect a multitude of biological processes. The ability of Ca to bind to proteins to alter their charge and conformation is essential to achieve its signaling role. Cytosolic Ca (Ca) concentration is maintained low at ~100 nM so that the impact of elevations in Ca is readily sensed and transduced by cells. However, such elevations in Ca must be transient to prevent detrimental effects. Cells have developed a variety of systems to rapidly clear the excess of Ca including Ca pumps, exchangers and sequestering Ca within intracellular organelles. This Ca signaling toolkit is evolutionarily adapted so that each cell, tissue, and organ can fulfill its biological function optimally. One of the most specialized cells in mammals are the enamel forming cells, the ameloblasts, which also handle large quantities of Ca. The end goal of ameloblasts is to synthesize, secrete and mineralize a unique proteinaceous matrix without the benefit of remodeling or repair mechanisms. Ca uptake into ameloblasts is mainly regulated by the store operated Ca entry (SOCE) before it is transported across the polarized ameloblasts to reach the insulated enamel space. Here we review the ameloblasts Ca signaling toolkit and address how the common electronegative non-metal fluoride can alter its function, potentially addressing the biology of dental fluorosis.
Topics: Ameloblasts; Animals; Calcification, Physiologic; Calcium; Dental Sac; Epithelial Cells; Fluorides; Humans
PubMed: 34456880
DOI: 10.3389/fendo.2021.730913 -
Journal of Molecular Histology Dec 2019Mutations in the gene encoding family with sequence similarity 20, member A (FAM20A) caused amelogenesis imperfecta (AI), in humans. However, the roles of FAM20A in...
Mutations in the gene encoding family with sequence similarity 20, member A (FAM20A) caused amelogenesis imperfecta (AI), in humans. However, the roles of FAM20A in amelogenesis and dentinogenesis are poorly understood. In this study, we generated a Fam20a knockout (Sox2-Cre;Fam20a) mouse model by crossing Fam20a mice with Sox2-Cre transgenic mice, in which Fam20a was ablated in both dental epithelium and dental mesenchyme. We found that these mice developed an enamel phenotype that resembles human AI associated with FAM20A mutations, but did not have apparent dentin defects. The secretory stage ameloblasts in the mandibular incisors from the Sox2-Cre;Fam20a mice were shorter and detached from the enamel matrix, and subsequently lost their polarity, became disorganized and formed numerous spherical extracellular matrices in place of normal enamel. At the molecular level, the Sox2-Cre;Fam20a mice displayed dramatically reduced expression levels of the genes encoding the enamel matrix proteins, but unaltered levels of the genes encoding the dentin matrix proteins. Moreover, Fam20a ablation resulted in a great decrease in FAM20C protein level, but it did not alter the intracellular localization of FAM20C protein in ameloblasts and odontoblasts. These results indicate that FAM20A is essential for amelogenesis, but is dispensable for dentinogenesis.
Topics: Ameloblasts; Amelogenesis; Amelogenesis Imperfecta; Animals; Calcium-Binding Proteins; Dental Enamel; Dental Enamel Proteins; Dentin; Dentinogenesis; Extracellular Matrix Proteins; Humans; Mice, Knockout; Mice, Transgenic; Mutation; Odontoblasts; SOXB1 Transcription Factors
PubMed: 31667691
DOI: 10.1007/s10735-019-09851-x -
Dentistry Journal Feb 2019Amelogenesis imperfecta (AI) is a hereditary developmental disorder affecting the enamel of teeth. Affected patients present with tooth hypersensitivity, rapid tooth...
Amelogenesis imperfecta (AI) is a hereditary developmental disorder affecting the enamel of teeth. Affected patients present with tooth hypersensitivity, rapid tooth wear, or fractures of enamel as well as alterations in color and shape, all of which compromise esthetic appearance and masticatory function. Chronic conditions in childhood severely impact the whole family, affecting normal family routines and/or increasing the family's financial burden. The aim of this study was to explore experiences and the impact on daily life of being a parent to a child with severe forms of amelogenesis imperfecta. Parents of children and adolescents with AI participated in an interview with a psychologist. The transcribed interviews were analyzed using thematic analysis. The parents talked about several concerns about having a child with AI. Four main themes emerged from the interviews: Feelings associated with passing on a hereditary disorder, knowledge decreases stress, unfamiliarity with the diagnosis, and psychosocial stress. In these main categories we identified several subthemes. Feelings associated with passing on a hereditary disorder included the subtheme of guilt/shame; knowledge decreases stress included knowledge about diagnosis in the family and support from dental health care professionals; Unfamiliarity with diagnosis included missed diagnosis, fear of not getting correct treatment, and insufficient pain control; finally, the subtheme Psychosocial stress included fear of child being bullied and emergency dental visits. The findings show that parents of children with severe amelogenesis imperfecta report similar experiences as do parents of children with other chronic and rare diseases.
PubMed: 30744129
DOI: 10.3390/dj7010017 -
Journal of Pharmacological Sciences Jan 2022Cyclin M (CNNM) and its prokaryotic ortholog CorC belong to a family of proteins that function as Mg-extruding transporters by stimulating Na/Mg exchange, and thereby... (Review)
Review
Cyclin M (CNNM) and its prokaryotic ortholog CorC belong to a family of proteins that function as Mg-extruding transporters by stimulating Na/Mg exchange, and thereby control intracellular Mg levels. The Mg-extruding function of CNNM is inhibited by the direct binding of an oncogenic protein, phosphatase of regenerating liver (PRL), and this inhibition is responsible for the PRL-driven malignant progression of cancers. Studies with mouse strains deficient for the CNNM gene family revealed the importance of CNNM4 and CNNM2 in maintaining organismal Mg homeostasis by participating in intestinal Mg absorption and renal reabsorption, respectively. Moreover, CNNM proteins are involved in various diseases, and gene mutations in CNNM2 and CNNM4 cause dominant familial hypomagnesemia and Jalili syndrome, respectively. Genome wide association studies have also revealed the importance of CNNM2 in multiple major diseases, such as hypertension and schizophrenia. Collectively, the molecular and biological characterizations of CNNM/CorC show that they are an intriguing therapeutic target; the current status of drug development targeting these proteins is also discussed.
Topics: Amelogenesis Imperfecta; Animals; Cation Transport Proteins; Cone-Rod Dystrophies; Genome-Wide Association Study; Homeostasis; Humans; Hypercalciuria; Hypertension; Kidney; Magnesium; Mice; Molecular Targeted Therapy; Mutation; Neoplasms; Nephrocalcinosis; Protein Binding; Protein Tyrosine Phosphatases; Renal Tubular Transport, Inborn Errors; Schizophrenia
PubMed: 34924118
DOI: 10.1016/j.jphs.2021.09.004 -
Journal of Applied Oral Science :... 2020Gingival conditions and tooth sensitivity of young patients with amelogenesis imperfecta lack in depth studies. This case-control study aimed to compare (1) the gingival...
METHODOLOGY
Gingival conditions and tooth sensitivity of young patients with amelogenesis imperfecta lack in depth studies. This case-control study aimed to compare (1) the gingival inflammation, the presence of enamel defects, and tooth sensitivity in young patients with and without amelogenesis imperfecta and (2) to investigate if any difference exists between subtypes of amelogenesis imperfecta. We compared forty-two participants with amelogenesis imperfecta with forty-two controls matched for age, gender, and the number of examined sites. Based on interview, clinical examination, and intraoral photography, we collected data on periodontal conditions, enamel defects and the presence of tooth sensitivity. Comparison tests were performed to investigate if any difference existed between cases and controls; and among cases, between the different subtypes of amelogenesis imperfecta. We performed a post-hoc analysis for any significant difference observed.
RESULTS
We observed more gingival inflammation, enamel defects and tooth sensitivity among cases (all p<0.05). Participants with hypocalcified amelogenesis imperfecta had more gingival inflammation, enamel defects, and tooth sensitivity than patients with the hypoplastic and hypomature subtypes (all p<0.05). After adjustment for dental plaque, gingival inflammation was associated with the presence of amelogenesis imperfecta (OR (95%CI) = 1.14 (1.05; 1.24). p<0.01).
CONCLUSION
Gingival inflammation, enamel defect and tooth sensitivity are more frequently observed among young patients with amelogenesis imperfecta, and more specifically among children with the hypocalcified subtype.
Topics: Amelogenesis Imperfecta; Case-Control Studies; Child; Dental Enamel; Dentin Sensitivity; Female; Humans; Inflammation; Male
PubMed: 32997085
DOI: 10.1590/1678-7757-2020-0170 -
Journal of Personalized Medicine Oct 2023Hereditary conditions that affect tooth enamel in quantity and/or quality are called amelogenesis imperfecta (AI). AI can occur as an isolated condition or as a symptom...
Hereditary conditions that affect tooth enamel in quantity and/or quality are called amelogenesis imperfecta (AI). AI can occur as an isolated condition or as a symptom of a syndrome. An OMIM search with the term "AI" yielded 79 result entries. Mutations in the same gene cause syndromic or non-syndromic AI, depending on the nature of the mutations. In this study, we recruited two AI families and performed mutational analysis using whole-exome sequencing. The proband of family 1, with hypoplastic pitted AI and mild localized atopic dermatitis, had compound heterozygous mutations (paternal NM_000494.4: c.3598G>T, p.Asp1200Tyr and maternal c.1700G>A, p.Gly567Glu). The proband of family 2, with hypoplastic pitted AI and Jervell and Lange-Nielsen syndrome, had a recurrent mutation (NM_000228.3: c.3463_3475del, p.(Glu1155Thrfs*51)) in addition to compound heterozygous mutations in the KCNQ1 gene.
PubMed: 37888105
DOI: 10.3390/jpm13101494 -
Clinical and Experimental Dental... Feb 2022To determine if native Colombian Piper marginatum Jacq. and Ilex guayusa Loes plant extracts have a remineralizing effect on teeth with Amelogenesis imperfecta in...
OBJECTIVE
To determine if native Colombian Piper marginatum Jacq. and Ilex guayusa Loes plant extracts have a remineralizing effect on teeth with Amelogenesis imperfecta in comparison with the commercial products Clinpro-3M and Recaldent™.
MATERIAL AND METHODS
An in vitro study was carried out with 128 human teeth slices (64 healthy and 64 with Amelogenesis imperfecta) on which an initial Raman spectroscopy was performed followed by Raman spectroscopies at 0, 24, 48, and 72 h to determine possible remineralization by observing mineral increase or decrease as a result of P. marginatum Jacq. and I. guayusa Loes extract application in comparison to control substance (Clinpro and Recaldent™) application. Obtained data were analyzed using a bivariate method with a t unidirectional test. Significant differences among groups were determined by an ANOVA with Dunnett post hoc tests.
RESULTS
Native I. guayusa Loes and P. marginatum Jacq. Colombian plants extracts exhibited phosphate and orthophosphate mineral apposition, where P. marginatum Jacq. presented better results.
CONCLUSIONS
Native Colombian I. guayusa Loes and P. marginatum Jacq plant extract might in the future be useful for dental tissue remineralization, as they induced phosphate and orthophosphate mineral apposition, main components of tooth enamel. These types of natural compounds can become an alternative to fluorine, whose ingestion is harmful to the human body.
Topics: Amelogenesis Imperfecta; Colombia; Humans; Minerals; Phosphates; Plant Extracts
PubMed: 34498426
DOI: 10.1002/cre2.485 -
Children (Basel, Switzerland) Mar 2022Amelogenesis imperfecta (AI) is a heterogeneous group of rare genetic disorders affecting amelogenesis during dental development. Therefore, the molecular genetic...
Amelogenesis imperfecta (AI) is a heterogeneous group of rare genetic disorders affecting amelogenesis during dental development. Therefore, the molecular genetic etiology of AI can provide information about the nature and progress of the disease. To confirm the genetic etiology of AI in a Korean family with an autosomal dominant inheritance, pedigree and mutational analyses were performed. DNA was isolated from the participating family members and whole-exome sequencing was performed with the DNA sample of the father of the proband. The identified mutation was confirmed by Sanger sequencing. The mutational analysis revealed a novel nonsense mutation in the FAM83H gene (NM_198488.5: c.1363C > T, p.(Gln455*)), confirming autosomal dominant hypocalcified AI. Full-mouth restorative treatments of the affected children were performed after the completion of the deciduous dentition. Early diagnosis of AI can be useful for understanding the nature of the disease and for managing the condition and treatment planning.
PubMed: 35327801
DOI: 10.3390/children9030429