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Öğe Alteration of exon definition causes amelogenesis imperfecta(SAGE Publications Inc., 2020) Kim, Young-jae; Kang, Jenny; Seymen, Figen; Koruyucu, Mine; Zhang, Hong; Kasımo?lu, Yelda; Bayram, Merve; Tuna-İnce, Elif Bahar; Bayrak, Şule; Tüloğlu, Nuray; Hu, Jan C.; Simmer, James P.; Kim, Jung-WookAmelogenesis imperfecta (AI) is a collection of genetic disorders affecting the quality and/or quantity of tooth enamel. More than 20 genes are, so far, known to be responsible for this condition. In this study, we recruited 3 Turkish families with hypomaturation AI. Whole-exome sequence analyses identified disease-causing mutations in each proband, and these mutations cosegregated with the AI phenotype in all recruited members of each family. The AI-causing mutations in family 1 were a novel AMELX mutation [NM_182680.1:c.143T>C, p.(Leu48Ser)] in the proband and a novel homozygous MMP20 mutation [NM_004771.3:c.616G>A, p.(Asp206Asn)] in the mother of the proband. Previously reported compound heterozygous MMP20 mutations [NM_004771.3:c.103A>C, p.(Arg35=) and c.389C>T, p.(Thr130Ile)] caused the AI in family 2 and family 3. Minigene splicing analyses revealed that the AMELX missense mutation increased exonic definition of exon 4 and the MMP20 synonymous mutation decreased exonic definition of exon 1. These mutations would trigger an alteration of exon usage during RNA splicing, causing the enamel malformations. These results broaden our understanding of molecular genetic pathology of tooth enamel formation.Öğe Aquaporin 5 interacts with fluoride and possibly protects against caries(Public Library of Science, 2015) Anjomshoaa, Ida; Briseno-Ruiz, Jessica; Deeley, Kathleen; Poletta, Fernardo; Mereb, Juan; Leite, Aline; Barreta, Priscila; Silva, Thelma; Dizak, Piper; Ruff, Timothy; Patır, Aslı; Koruyucu, Mine; Abbasoğlu, Zerrin; Casado, Priscila; Brown, Andrew; Zaky, Samer; Bayram, Merve; Kuechler, Erika; Cooper, Margaret; Liu, Kai; Marazita, Mary; Tanboğa, İlknur; Granjeiro, Jose; Seymen, Figen; Castilla, Eduardo; Orioli, Ieda; Sfeir, Charles; Owyang, Hongjiao; Buzalaf, Marilia; Vieira, AlexandreAquaporins (AQP) are water channel proteins and the genes coding for AQP2, AQP5, and AQP6 are clustered in 12q13. Since AQP5 is expressed in serous acinar cells of salivary glands, we investigated its involvement in caries. DNA samples from 1,383 individuals from six groups were studied. Genotypes of eight single nucleotide polymorphisms covering the aquaporin locus were tested for association with caries experience. Interaction with genes involved in enamel formation was tested. The association between enamel microhardness at baseline, after creation of artificial caries lesion, and after exposure to fluoride and the genetic markers in AQP5 was tested. Finally, AQP5 expression in human whole saliva, after exposure to fluoride in a mammary gland cell line, which is known to express AQP5, and in Wistar rats was also verified. Nominal associations were found between caries experience and markers in the AQP5 locus. Since these associations suggested that AQP5 may be inhibited by levels of fluoride in the drinking water that cause fluorosis, we showed that fluoride levels above optimal levels change AQP5 expression in humans, cell lines, and rats. We have shown that AQP5 is involved in the pathogenesis of caries and likely interacts with fluoride.Öğe Comparison of root canal length measurement methods in primary teeth(University Library System, University of Pittsburgh, 2018) Koruyucu, Mine; Bayram, Merve; Kasımo?lu, Yelda; Seymen, FigenObjectves: The purpose of this study was to evaluate the accuracy of conven5onal radiography, intraoral digital radi- ovisiography and electronic apex locator in determining the working length of root canals in primary teeth (in-vivo) and to compare the results with scanning electron microscopy measurements (ex-vivo). Materials and Methods: This study was conducted on 50 primary molar teeth. Standard endodon7c access cavity prepara7ons were prepared and the actual length was calculated by calibrated inves3gators. Working lengths were determined by using conven5onal radiography, RVG and apex locator in a total of 116 root canals. A;er the extraconal radiog- raphy in determining the working length in primary teeth. Conclusions: The electronic apex locators provide an ac- ceptable level of accuracy in determining root canal length in primary teeth. Clinical Relevance: The purpose of this study was to evaluate the accuracy of conven,onal radiography, intraoral digital radiovisiography and electronic apex locator in determining the working length of root canals in primary teeth and,to compare the results with scanning electron microscopy measurements.Öğe Erken çocukluk döneminde travmatik diş yaralanmalarının, maloklüzyonların ve diş çürüğünün ağız sağlığı ile ilişkili yaşam kalitesi üzerine etkisi(Selcuk University, 2021) Gürcan, Aliye Tuğçe; Koruyucu, Mine; Bayram, Merve; Seymen, FigenAmaç: Bu çalışmanın amacı, travmatik diş yaralanmalarının (TDY) ve diş çürüğünün okul öncesi çocukların Ağız Sağlığı ile İlişkili Yaşam Kalitesi (OHRQoL) üzerindeki etkisini değerlendirmektir. Gereç ve Yöntemler: Ağız Sağlığı ile İlişkili Yaşam Kalitesini ölçmek için 206 okul öncesi çocuğun velisine 13 soruluk Erken Çocukluk Çağı Ağız Sağlığı Etki Ölçeği (ECOHIS) uygulanmıştır. Çocukların travmatik diş yaralanmaları, diş çürüğü (dmft skorları) ve ön bölge maloklüzyon özelliklerine bakılmıştır. Bulgular: Çocukların yaş ortalaması 4.09 ± 0.97 bulunmuştur. Diş çürüğü, Ağız Sağlığı ile İlişkili Yaşam Kalitesi üzerinde olumsuz bir etki göstermiştir. Diş çürüğü; Ağız Sağlığı ile İlişkili Yaşam Kalitesi ortalaması, semptomları, fonksiyonu, psikolojisi, ailesel sıkıntı ve aile fonksiyon alanları üzerinde olumsuz bir etki göstermiştir. Ön bölgede maloklüzyon varlığı sadece sosyal etkileşim alanı üzerinde olumsuz bir etki göstermiştir. Komplike travmatik diş yaralanmaları, komplike olmayan travmatik diş yaralanmalarına göre semptomlar açısından daha olumsuz bir etki göstermiştir. Sonuç: Travmatik dental yaralanma ve maloklüzyon gözlenen dişin varlığı, okul öncesi çocukların Ağız Sağlığı ile İlişkili Yaşam Kalitesi üzerinde yalnızca çocuk alanında olumsuz bir etkiye sahiptir; ancak, diş çürüğü, hem çocuk alanında hem aile alanında Ağız Sağlığı ile İlişkili Yaşam Kalitesi ile güçlü bir ilişkiye sahiptir.Öğe Fine mapping of locus Xq25.1-27-2 for a low caries experience phenotype(Pergamon-Elsevier Science Ltd., 2014) Küchler, Erika Calvano; Feng, Ping; Deeley, Kathleen; Fitzgerald, Carly A.; Meyer, Chelsea; Gorbunov, Anastasia; Bezamat, Mariana; Reis, Maria Fernanda; Noel, Jacqueline; Kouzbari, M. Zahir; Granjeiro, Jose Mauro; Antunes, Leonardo Santos; Antunes, Lívia Azeredo Alves; Abreu, Fernanda Volpe De; Meneghim, Marcelo de Castro; Tannure, Patrícia Nivoloni; Seymen, Figen; Koruyucu, Mine; Patır, Aslı; Vieira, Alexandre RezendeObjective: The purpose of this study was to fine map the locus Xq25.1-27-2 in order to identify genetic contributors involved in low caries experience. Design: Seventy-two families from the Philippines were studied. Caries experience was recorded and genomic DNA extracted from peripheral blood was obtained from all subjects. One hundred and twenty-eight polymorphisms in the locus Xq25.1-27-2, a region that contains 24 genes, were genotyped. Association between caries experience and alleles was tested using the transmission disequilibrium test (TOT). This initial analysis was followed by experiments with DNA samples from 1481 subjects from Pittsburgh, 918 children from Brazil, and 275 children from Turkey in order to follow up the results found in the Filipino families. Chi-square or Fisher's exact tests were used. Sequencing of the coding regions and exon-intron boundaries of MST4 and FGF13 were also performed on 91 women from Pittsburgh. Results: Statistically significant association with low caries experience was found for 11 markers in Xq25.1-27-2 in the Filipino families. One marker was in MST4, another marker was in FGF13, and the remaining markers were in intergenic regions. Haplotype analysis also confirmed these results, but the follow up studies with DNA samples from Pittsburgh, Brazil, and Turkey showed associations for a subset of the 11 markers. No coding mutations were identified by sequencing. Conclusions: Our study failed to conclusively demonstrate that genetic factors in Xq25.1-27-2 contribute to caries experience in multiple populations. (C) 2014 Elsevier Ltd. All rights reserved.Öğe Gene-environment interaction in molar-incisor hypomineralization(Public Library of Science, 2021) Bezamat, Mariana; Souza, Juliana Feltrin de; Silva, Fernanda M.F.; Corrêa, Emilly G.; Fatturi, Aluhê Lopes; Brancher, Joäo Armando; Carvalho, Flávia M.; Cavallari, Tayla; Bertolazo, Laís; Machado-Souza, Cleber; Koruyucu, Mine; Bayram, Merve; Racic, Andrea; Harrison, Benjamin M.; Sweat, Yan Yan; Letra, Ariadne; Studen-Pavlovich, Deborah A.; Seymen, Figen; Amendt, Brad A.; Iani Werneck, Renata; Costa, Marcelo C.; Modesto, Adriana M.; Vieira, Alexandre RezendeMolar incisor hypomineralization (MIH) is an enamel condition characterized by lesions ranging in color from white to brown which present rapid caries progression, and mainly affects permanent first molars and incisors. These enamel defects usually occur when there are disturbances during the mineralization or maturation stage of amelogenesis. Both genetic and environmental factors have been suggested to play roles in MIH’s development, but no conclusive risk factors have shown the source of the disease. During head and neck development, the interferon regulatory factor 6 (IRF6) gene is involved in the structure formation of the oral and maxillofacial regions, and the transforming growth factor alpha (TGFA) is an essential cell regulator, acting during proliferation, differentiation, migration and apoptosis. In this present study, it was hypothesized that these genes interact and contribute to predisposition of MIH. Environmental factors affecting children that were 3 years of age or older were also hypothesized to play a role in the disease etiology. Those factors included respiratory issues, malnutrition, food intolerance, infection of any sort and medication intake. A total of 1,065 salivary samples from four different cohorts were obtained, and DNA was extracted from each sample and genotyped for nine different single nucleotide polymorphisms. Association tests and logistic regression implemented in PLINK were used for analyses. A potential interaction between TGFA rs930655 with all markers tested in the cohort from Turkey was identified. These interactions were not identified in the remaining cohorts. Associations (p<0.05) between the use of medication after three years of age and MIH were also found, suggesting that conditions acquired at the age children start to socialize might contribute to the development of MIH.Öğe Genetic mapping of high caries experience on human chromosome 13(BMC, 2013) Küchler, Erika Calvano; Deeley, Kathleen; Ho, Bao; Linkowski, Samantha; Meyer, Chelsea; Noel, Jacqueline; Kouzbari, M. Zahir; Bezamat, Mariana; Granjeiro, José Mauro; Antunes, Leonardo Santos; Antunes, Lívia Azeredo Alves; Abreu, Fernanda Volpe De; Meneghim, Marcelo de Castro; Tannure, Patrícia Nivoloni; Seymen, Figen; Koruyucu, Mine; Patır, Aslı; Mereb, Juan Carlos; Poletta, Fernando Adrián; Castilla, Eduardo Enrique; Orioli, Iêda Maria; Marazita, Mary Louise; Vieira, Alexandre RezendeBackground: Our previous genome-wide linkage scan mapped five loci for caries experience. The purpose of this study was to fine map one of these loci, the locus 13q31.1, in order to identify genetic contributors to caries. Methods: Seventy-two pedigrees from the Philippines were studied. Caries experience was recorded and DNA was extracted from blood samples obtained from all subjects. Sixty-one single nucleotide polymorphisms (SNPs) in 13q31.1 were genotyped. Association between caries experience and alleles was tested. We also studied 1,481 DNA samples obtained from saliva of subjects from the USA, 918 children from Brazil, and 275 children from Turkey, in order to follow up the results found in the Filipino families. We used the AliBaba2.1 software to determine if the nucleotide changes of the associated SNPs changed the prediction of the presence of transcription-binding site sequences and we also analyzed the gene expression of the genes selected based on binding predictions. Mutation analysis was also performed in 33 Filipino individuals of a segment of 13q31.1 that is highly conserved in mammals. Results: Statistically significant association with high caries experience was found for 11 markers in 13q31.1 in the Filipino families. Haplotype analysis also confirmed these results. In the populations used for follow-up purposes, associations were found between high caries experience and a subset of these markers. Regarding the prediction of the transcription-binding site, the base change of the SNP rs17074565 was found to change the predicted-binding of genes that could be involved in the pathogenesis of caries. When the sequence has the allele C of rs17074565, the potential transcription factors binding the sequence are GR and GATA1. When the subject carries the G allele of rs17074565, the potential transcription factor predicted to bind to the sequence is GATA3. The expression of GR in whole saliva was higher in individuals with low caries experience when compared to individuals with high caries experience (p = 0.046). No mutations were found in the highly conserved sequence. Conclusions: Genetic factors contributing to caries experience may exist in 13q31.1. The rs17074565 is located in an intergenic region and is predicted to disrupt the binding sites of two different transcription factors that might be involved with caries experience. GR expression in saliva may be a biomarker for caries risk and should be further explored.Öğe Investigating the level of knowledge of the community about oral and dental health(Georg Thieme Verlag, 2021) Birant, Sinem; Koruyucu, Mine; Özcan, Hazal; İlisulu, Ceren; Kasımoğlu, Yelda; Üstün, Nilüfer; Kocaaydın, Simin; Bektaş, Dilara; Usta, Gülsevim; Akay Tekin, Cansu; Bekiroğlu, Nural; Seymen, FigenObjectives This study aimed to determine the knowledge and approaches of the participants about oral and dental health. Materials and Methods This was a questionnaire-based cross-sectional survey. Participants' demographic characteristics, tooth brushing habits, selection of toothpaste, and reasons for visiting the dentist were examined in this study. Participants' knowledge levels of fluoride and their attitudes toward the most common fluoride applications among preventive treatments were also evaluated. Data entry and analyses were performed using SPSS statistical software. Descriptive and inferential statistics and chi-square test were used for analyzes. Results A total of 2,744 voluntary participants including 1,938 (70.6%) females and 806 (29.4%) males responded; 1,391 (50.7%) participants know the contents of their toothpaste; 1,680 (61.2%) participants point out that fluoride is effective in preventing dental caries. Female participants reported a statistically significant difference in their knowledge of what is fluoride when compared with male participants (p = 0.0001). The knowledge level of participants who had higher levels of education were statistically significantly different when compared with the participants who had lower education levels about fluoride and fluoride applications (p = 0.0001). Conclusions The results of this study indicate that participants' attitudes toward oral health and dental care need to be improved.Öğe Investigation of surface topography of different root-end filling materials: an in vitro study(University Library System, University of Pittsburgh, 2019) Koruyucu, Mine; Özcan, Hazal; Bayram, Merve; Çankaya, Abdullah Burak; Kekliko?lu, Nurullah; Seymen, FigenAim: Although there are many materials that can be used for retrograde filling in surgical endodontics, none of them can be regarded as an ideal material yet. The purpose of this study was to compare the surface topography of three different root-end filling materials. Methods: 36 extracted single rooted human incisor teeth were cleaned and decoronated to standardized 10 mm root lengths. The root segments were prepared and 2 mm apical resection were performed. The samples were randomly separeted to three groups (Group A: Ca(OH)2, Group B: MTA Angelus, Group C: ProRoot MTA), each one of them was comprised of 12 roots. Materials were placed as 2 mm apical barriers and obturated with guttapercha and AH-Plus sealer. Each group was dimidiated into two subgroups (A1,A2,B1,B2,C1,C2). Groups A1,B1,C1 were stored in normal saline (NS), groups A2,B2,C2 were stored in neutral phosphate buffer saline (NPBS) solution and samples were incubated at 370C for 2 weeks. Stereomicroscope (32X) was used to photograph the root-end filling. Results: All specimens demonstrated white crystals formation and sediment over the root-end filling materials and on the superficial border of the root-end cavities’ wall as a white plaque. A2,B2,C2 samples had more crystal sediment on root-end fillings than samples A1,B1,C1. Dissolution and corrosion were observed in groups A1, A2. Conclusions: The results of this study revealed that calcium hydroxide is more resorbable than MTA Angelus and ProRoot MTA. The crystals formation and precipitation were observed in neutral phosphate buffer saline solution which were more than normal saline solution for all groups as a hydroxiapatite crystals.Öğe Investigation of the cytotoxic effect of current dentine bonding agents on human dental pulp cells(2024) Koruyucu, Mine; Akay, Cansu; Solakoğlu, Seyhun; Gencay, KorayBackground: An ideal aesthetic restorative material should be attached to the tooth tissues by adhesion, have a smooth surface as possible, should not cause toxic reactions in the pulp and discoloration and microleakage. This study aims at comparatively assess the cytotoxicity of current adhesive systems on human dental pulp cells. Materials and methods: The adequate density of human pulp cells was observed from the ready cell line. The passaging was performed and the 3rd passage cells were selected. Adhesive systems and MTA were used on the cultures. Trypan blue staining was conducted on the cells at the 1st, 2nd, 3rd days and a count of live and dead cells using a light microscope. The dead cells whose membrane integrity was impaired by staining with trypan blue and the viability rate was determined using live and dead cell numbers. Data analysis was performed using IBM SPSS Statistics 22. Results: A significant difference in vialibity rates between adhesive systems was observed on the first day. No significant statistical differences were observed on the 2nd and 3rd days (p < 0.05). Conclusion: Futurabond M showed similar biocompatibility with MTA on human pulp cells and it can be applied in cavities with 1–1.5 mm hard tissue between pulp and dentine.Öğe Mutations in RELT cause autosomal recessive amelogenesis imperfecta(Wiley, 2019) Kim, Jung-Wook; Zhang, Hong; Seymen, Figen; Koruyucu, Mine; Hu, Yuanyuan; Kang, Jenny; Kim, Youn Ju; Ikeda, Atsushi; Kasımoğlu, Yelda; Bayram, Merve; Zhang, Chuhua; Kawasaki, Kazuhiko; Bartlett, John D.; Saunders, Thomas L.; Simmer, James P.; Hu, Jan C-C.Amelogenesis imperfecta (AI) is a collection of isolated (non-syndromic) inherited diseases affecting dental enamel formation or a clinical phenotype in syndromic conditions. We characterized three consanguineous AI families with generalized irregular hypoplastic enamel with rapid attrition that perfectly segregated with homozygous defects in a novel gene: RELT that is a member of the tumor necrosis factor receptor superfamily (TNFRSF). RNAscope in situ hybridization of wild-type mouse molars and incisors showed specific Relt mRNA expression by secretory stage ameloblasts and by odontoblasts. Relt(-/-) mice generated by CRISPR/Cas9 exhibited incisor and molar enamel malformations. Relt(-/-) enamel had a rough surface and underwent rapid attrition. Normally unmineralized spaces in the deep enamel near the dentino-enamel junction (DEJ) were as highly mineralized as the adjacent enamel, which likely altered the mechanical properties of the DEJ. Phylogenetic analyses showed the existence of selective pressure on RELT gene outside of tooth development, indicating that the human condition may be syndromic, which possibly explains the history of small stature and severe childhood infections in two of the probands. Knowing a TNFRSF member is critical during the secretory stage of enamel formation advances our understanding of amelogenesis and improves our ability to diagnose human conditions featuring enamel malformations.Öğe Orthodontic treatment needs of children: Comparison of three index(Istanbul University, 2014) Koruyucu, Mine; İnce Tuna, Elif Bahar; Seymen, Figen; Münevveroğlu Patır, Aslı; Acar, GözdePurpose: An orthodontic treatment need index is a form of occlusal index devised initially to prioritize the need for treatment and to categorize the malocclusion and identify patients based upon treatment need. The aim of this study was to evaluate orthodontic treatment needs of children using IOTN (Index of Orthodontic Treatment Need), DAI (the Dental Aesthetic Index) and ICON (Index of Complexity, Outcome and Need) and the relationship among the three index. Material and Methods: After ethical approval and informed consent were obtained; 100 children aged 10-12 years were examined for malocclusion, overjet, overbite, open bite and crossbite. The study models of subjects were taken and the DAI, the Dental Health Component (DHC) and the Aesthetic Component (AC) of IOTN and ICON were compared. Statistical analysis was performed by using NCSS 2007 software and regression analysis was performed between the results. Results: The mean average scores of DAI, IOTN-DHC, IOTN-AC and ICON indices were 25.44±8.05, 2.46±0.98, 4.17±2.53 and 38.67±21.08, respectively. Statistically significant differences were found between DAI, IOTN-DHC, IOTN-AC and ICON scores (p<0.01). Conclusion: DAI, IOTN and ICON were found to be significantly correlated with each other regarding the prevalence of malocclusion and orthodontic treatment need.Öğe Rethinking isolated cleft lip and palate as a syndrome(Elsevier Science Inc, 2018) Koruyucu, Mine; Kasımoğlu, Yelda; Seymen, Figen; Bayram, Merve; Patır Münevveroğlu, Aslı; Ergöz, Nihan; Tuna, Elif Bahar; Gencay, Koray; Deeley, Kathleen; Bussaneli, Diego; Modesto, Adriana; Vieira, Alexandre R.Objective. The goal of the present work was to use dental conditions that have been independently associated with cleft lip and palate (CL/P) as a tool to identify a broader collection of individuals to be used for gene identification that lead to clefts. Study design. We studied 1573 DNA samples combining individuals that were born with CL/P or had tooth agenesis, supernumerary teeth, molar incisor hypomineralization, or dental caries with the goal to identify genetic associations. We tested 2 single-nucleotide polymorphisms that were located in the vicinity of regions suggested to contribute to supernumerary teeth. Overrepresentation of alleles were determined for combinations of individuals as well as for each individual phenotypic group with an alpha of.05. Results. We determined that the allele C of rs622260 was overrepresented in all individuals studied compared with a group of unrelated individuals who did not present any of the conditions described earlier. When subgroups were tested, associations were found for individuals with hypomineralization. Conclusions. Although we did not test this hypothesis directly in the present study, based on associations reported previously, we believe that CL/P is actually a syndrome of alterations of the dentition, and considering it that way may allow for the identification of genotype-phenotype correlations that may be useful for clinical care.Öğe Risk factors for early childhood caries (ECC) in 2-5 years old children(Istanbul University, 2014) Münevveroğlu Patır, Aslı; Koruyucu, Mine; Seymen, FigenPurpose: The aim of this study was to determine the association of dietary habits and socioeconomic status for early childhood caries (ECC) among 2-5 years old children. Materials and Methods: A total of 200 children (aged 2-5 years) were examined for gender, dmft, dmfs, dietary and brushing habits, duration and contents of bottle feeding, number of family individuals, educational level and occupation of parents and socioeconomic status. Statistical analysis was performed by using NCSS 2007 software and one-way ANOVA, tukey test, t-test, chi-square test were performed between the groups. Results: According to the results, 62.7% of the children had a history of bottle-feeding. Gender, number of main meal and drinking milk before sleeping were positively and total income was negatively associated with bottle feeding (p=0.031, p=0.017, p=0.038, p=0.0001). For children which were using bottle, the mean average of dmf and dmfs scores were 9.88, 15.5 respectively. Statistically significant differences were found between dmf, dmfs scores and bottle feeding (p=0.0001). Only breast feeding, only feeding bottle and bottle with breast feeding were significantly associated with dmf and dmfs scores (p=0.0001). Anterior caries pattern was significantly high for bottle feeeding than only breast and bottle feeding and only breast feeding (p=0.0001). Socioeconomic status was found significantly associated with dmf and dmfs scores (p=0.004, p=0.036). Conclusion: ECC was more prevalent in preschool children especially who were in low socioeconomic status. It was concluded that night-time breast-feeding in children, using of a bottle at night and during the day correlated with the etiology of ECC.Öğe Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay(BMC, 2014) Weber, Megan L.; Hsin, Hong-Yuan; Kalay, Ersan; Brozkova, Dana Safka; Shimizu, Takehiko; Bayram, Merve; Deeley, Kathleen; Kuchler, Erika Calvano; Forella, Jessalyn; Ruff, Timothy; Trombetta, Vanessa M.; Sencak, Regina C.; Hummel, Michael; Briseno-Ruiz, Jessica; Revu, Shankar; Granjeiro, Jose Mauro; Antunes, Leonardo Dos Santos; Alves Antunes, Livia Azeredo; Abreu, Fernanda; Costa, Marcelo Castro; Tannure, Patricia Nivoloni; Koruyucu, Mine; Patır, Aslı; Poletta, Fernando; Mereb, Juan C.; Castilla, Eduardo Enrique; Orioli, Leda M.; Marazita, Mary L.; Ouyang, Hongjiao; Jayaraman, Thottala; Seymen, Figen; Vieira, Alexandre RezendeBackground: Congenital forms of hearing impairment can be caused by mutations in the estrogen related receptor beta (ESRRB) gene. Our initial linkage studies suggested the ESRRB locus is linked to high caries experience in humans. Methods: We tested for association between the ESRRB locus and dental caries in 1,731 subjects, if ESRRB was expressed in whole saliva, if ESRRB was associated with the microhardness of the dental enamel, and if ESRRB was expressed during enamel development of mice. Results: Two families with recessive ESRRB mutations and DFNB35 hearing impairment showed more extensive dental destruction by caries. Expression levels of ESRRB in whole saliva samples showed differences depending on sex and dental caries experience. Conclusions: The common etiology of dental caries and hearing impairment provides a venue to assist in the identification of individuals at risk to either condition and provides options for the development of new caries prevention strategies, if the associated ESRRB genetic variants are correlated with efficacy.Öğe Role of TRAV locus in low caries experience(Springer, 2013) Briseno-Ruiz, Jessica; Shimizu, Takehiko; Deeley, Kathleen; Dizak, Piper; Ruff, Timothy; Faraco, Italo; Poletta, Fernando; Brancher, Joao; Pecharki, Giovana; Kuechler, Erika; Tannure, Patricia; Lips, Andrea; Vieira, Thays; Patir, Asli; Koruyucu, Mine; Mereb, Juan; Resick, Judith; Brandon, Carla; Letra, Ariadne; Silva, Renato; Cooper, Margaret; Seymen, Figen; Costa, Marcelo; Granjeiro, Jose; Trevilatto, Paula; Orioli, Ieda; Castilla, Eduardo; Marazita, Mary; Vieira, AlexandreCaries is the most common chronic, multifactorial disease in the world today; and little is still known about the genetic factors influencing susceptibility. Our previous genome-wide linkage scan has identified five loci related to caries susceptibility: 5q13.3, 13q31.1, 14q11.2, 14q 24.3, and Xq27. In the present study, we fine mapped the 14q11.2 locus to identify genetic contributors to caries susceptibility. Four hundred seventy-seven subjects from 72 pedigrees with similar cultural and behavioral habits and limited access to dental care living in the Philippines were studied. An additional 387 DNA samples from unrelated individuals were used to determine allele frequencies. For replication purposes, a total of 1,446 independent subjects from four different populations were analyzed based on their caries experience (low versus high). Forty-eight markers in 14q11.2 were genotyped using TaqMan chemistry. Transmission disequilibrium test was used to detect over transmission of alleles in the Filipino families, and Chi-square, Fisher's exact and logistic regression were used to test for association between low caries experience and variant alleles in the replication data sets. We finally assessed the mRNA expression of TRAV4 in the saliva of 143 study subjects. In the Filipino families, statistically significant associations were found between low caries experience and markers in TRAV4. We were able to replicate these results in the populations studied that were characteristically from underserved areas. Direct sequencing of 22 subjects carrying the associated alleles detects one missense mutation (Y30R) that is predicted to be probably damaging. Finally, we observed higher expression in children and teenagers with low caries experience, correlating with specific alleles in TRAV4. Our results suggest that TRAV4 may have a role in protecting against caries.Öğe Saliva profiles in children with congenital heart disease(Istanbul University Press, 2020) Koruyucu, Mine; Batu, Şule; Bayram, Merve; Uslu, Ezel; Güven, Yegane; Seymen, FigenPurpose The low salivary pH and buffering capacity are caused by using heart failure medications. For this reason oral health should be supported in cardiac patients, it is necessary that they attend dental clinics for regular follow up. The aim of this study is to evaluate the relationship between the salivary oxidative stress markers and salivary pH, salivary buffering capacity, salivary flow rate and dental caries of children with congenital heart disease (CHD). Material and Methods This cross sectional study was carried out with 42 CHD and 42 healthy children who applied to XXXXXXX. The participants’ gender, age, general health and medications, and caries scores (dfs/DMFS) were written down, then their unstimulated saliva samples were collected. These specimens were evaluated in terms of the salivary secretion rate, salivary buffering capacity, pH, protein levels, superoxide dismutase (SOD), ferric reducing antioxidant power (FRAP), the thiobarbituric acid reactive substances (TBARS), protein carbonyl, protein thiols, total sialic acid. Results Both groups showed caries at similar levels. The salivary pH and buffering capacity were significantly less in the children with CHD than in the controls. The levels of TBARS and protein carbonyl were significantly higher in the children with CHD than in the controls. There was not any significant difference relating to the mean salivary secretion rate, protein levels, SOD, FRAP, protein thiols and total sialic acid. Conclusion The elevated TBARS and protein carbonyl levels in the patients with CHD were observed as an indicator of the free radical damage leading to oxidative stress.
