Archives of oral biology最新文献

{"title":"Are deciduous upper molars and lower canines useful for sex estimation?","authors":"Cármen Valente ,&nbsp;Alexandra Teixeira ,&nbsp;Pedro Oliveira ,&nbsp;Inês Morais Caldas","doi":"10.1016/j.archoralbio.2024.106006","DOIUrl":"10.1016/j.archoralbio.2024.106006","url":null,"abstract":"<div><h3>Objective</h3><p>This paper investigates whether deciduous upper molars and lower canines have sexual dimorphic features, exploring these teeth' dimensions and the presence of Zuckerkandl’s tubercle and Carabelli’s cusp on the first and second upper molars.</p></div><div><h3>Design</h3><p>We analyzed 64 pairs of dental plaster casts from 34 females and 30 males aged between 3 and 12 years. We measured the first and second deciduous upper molars and the lower deciduous canines (maximum mesiodistal and buccolingual length), and we registered the presence of the Zuckerkandl’s tubercle and the Carabelli’s cusp on the first and second upper molars, respectively.</p></div><div><h3>Results</h3><p>Regarding the differentiation between sexes using Carabelli’s cusp and Zuckerkandl’s tubercle, the classification was not independent of Carabelli’s cusp presence only for tooth 65 (p = 0.035). In all other teeth, whether for Carabelli’s cusp or Zuckerkandl’s tubercle, their presence was similar for both sexes. There were statistically significant differences between sexes (p &lt; 0.05) for the buccolingual measurements of both upper second molars, the first right upper molar, and the right canine. The developed model allowed for a 64.1% accuracy in sex estimation.</p></div><div><h3>Conclusions</h3><p>The study suggests that while Carabelli’s cusp and Zuckerkandl’s tubercle in upper deciduous molars don't consistently differ between sexes, tooth size, particularly the buccolingual measurements of certain teeth, including upper deciduous molars and lower canines, may provide a more reliable criterion for sex estimation. The developed model depicted moderate accuracy, underscoring the need for a multifactorial approach when estimating sex from skeletal remains. It suggests that while dental features can contribute to sex estimation, they should be used in conjunction with other skeletal or molecular markers to improve accuracy.</p></div>","PeriodicalId":8288,"journal":{"name":"Archives of oral biology","volume":"165 ","pages":"Article 106006"},"PeriodicalIF":3.0,"publicationDate":"2024-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0003996924001274/pdfft?md5=a864d254be7f45701dcd8724b08cc621&pid=1-s2.0-S0003996924001274-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141025447","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High expression of serine protease inhibitor kazal type 1 predicts poor prognosis and promotes the progression and invasion of oral tongue squamous cell carcinoma","authors":"Shuang Wang ,&nbsp;Yaping Sun ,&nbsp;Dan Shao ,&nbsp;Yunjie Pan ,&nbsp;Xiaoyan Gao ,&nbsp;Peng Zhao ,&nbsp;Qiaoling Liu ,&nbsp;Gaishuang Shang ,&nbsp;Wei Shang ,&nbsp;Zhiguang Fu ,&nbsp;Yong Sun","doi":"10.1016/j.archoralbio.2024.106003","DOIUrl":"10.1016/j.archoralbio.2024.106003","url":null,"abstract":"<div><h3>Objective</h3><p>This study aimed to investigate the expression of serine protease inhibitor kazal type 1 (SPINK1) and its carcinogenic effect in oral tongue squamous cell carcinoma (OTSCC). Design: Initially, bioinformatics analysis was conducted using data from The Cancer Genome Atlas and Gene Expression Omnibus to compare SPINK1 mRNA expression between malignant and adjacent tissues. Subsequently, the impact of differential expression on survival and other clinical variables was examined. Additionally, histology microarray analysis was performed to assess SPINK1 protein expression in 35 cases of malignant and adjacent tissues. Finally, alterations in SPINK1 expression were evaluated to determine its biological phenotypes in OTSCC, including proliferation, apoptosis, invasion, and metastasis. Results: OTSCC tissues exhibit higher levels of SPINK1 compared to surrounding cancerous tissues. Notably, increased SPINK1 expression correlates with the pathological N stage and independently predicts overall survival among patients with OTSCC. Conclusion: Suppression of SPINK1 inhibited OTSCC cell proliferation, invasion, and motility while promoting apoptosis. These findings suggest that SPINK1 may serve as a prognostic biomarker as well as a potential therapeutic target for managing OTSCC.</p></div>","PeriodicalId":8288,"journal":{"name":"Archives of oral biology","volume":"164 ","pages":"Article 106003"},"PeriodicalIF":3.0,"publicationDate":"2024-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0003996924001249/pdfft?md5=5695cfa5b83ee739e7b8ca03058410c8&pid=1-s2.0-S0003996924001249-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141034902","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Type 17 immune response promotes oral epithelial cell proliferation in periodontitis","authors":"Ying Zhou ,&nbsp;Die Lv ,&nbsp;Weideng Wei ,&nbsp;Tong Zhou ,&nbsp;Shijie Tang ,&nbsp;Fan Yang ,&nbsp;Jiuge Zhang ,&nbsp;Lanxin Jiang ,&nbsp;Xiaoqiang Xia ,&nbsp;Yuchen Jiang ,&nbsp;Qianming Chen ,&nbsp;Yuan Yue ,&nbsp;Xiaodong Feng","doi":"10.1016/j.archoralbio.2024.106005","DOIUrl":"10.1016/j.archoralbio.2024.106005","url":null,"abstract":"<div><h3>Objectives</h3><p>This study aims to investigate the effects of type 17 immune response on the proliferation of oral epithelial cells in periodontitis.</p></div><div><h3>Design</h3><p>A time-dependent ligature induced periodontitis mouse model was utilized to explore gingival hyperplasia and the infiltration of interleukin 17A (IL-17A) positive cells. Immunohistochemistry and flow cytometry were employed to determine the localization and expression of IL-17A in the ligature induced periodontitis model. A pre-existing single-cell RNA sequencing dataset, comparing individuals affected by periodontitis with healthy counterparts, was reanalyzed to evaluate IL-17A expression levels. We examined proliferation markers, including proliferating cell nuclear antigen (PCNA), signal transducer and activator of transcription (STAT3), Yes-associated protein (YAP), and c-JUN, in the gingival and tongue epithelium of the periodontitis model. An anti-IL-17A agent was administered daily to observe proliferative changes in the oral mucosa within the periodontitis model. Cell number quantification, immunofluorescence, and western blot analyses were performed to assess the proliferative responses of human normal oral keratinocytes to IL-17A treatment in vitro.</p></div><div><h3>Results</h3><p>The ligature induced periodontitis model exhibited a marked infiltration of IL-17A-positive cells, alongside significant increase in thickness of the gingival and tongue epithelium. IL-17A triggers the proliferation of human normal oral keratinocytes, accompanied by upregulation of PCNA, STAT3, YAP, and c-JUN. The administration of an anti-IL-17A agent attenuated the proliferation in oral mucosa.</p></div><div><h3>Conclusions</h3><p>These findings indicate that type 17 immune response, in response to periodontitis, facilitates the proliferation of oral epithelial cells, thus highlighting its crucial role in maintaining the oral epithelial barrier.</p></div>","PeriodicalId":8288,"journal":{"name":"Archives of oral biology","volume":"164 ","pages":"Article 106005"},"PeriodicalIF":3.0,"publicationDate":"2024-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141057956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Red-complex bacteria exhibit distinctly different interactions with human periodontal ligament stromal cells compared to Fusobacterium nucleatum","authors":"Fabian L. Kendlbacher ,&nbsp;Susanne Bloch ,&nbsp;Fiona F. Hager-Mair ,&nbsp;Christina Schäffer ,&nbsp;Oleh Andrukhov","doi":"10.1016/j.archoralbio.2024.106004","DOIUrl":"10.1016/j.archoralbio.2024.106004","url":null,"abstract":"<div><h3>Objective</h3><p>The red-complex bacteria <em>Porphyromonas gingivalis</em> and <em>Tannerella forsythia</em> together with <em>Fusobacterium nucleatum</em> are essential players in periodontitis. This study investigated the bacterial interplay with human periodontal ligament mesenchymal stromal cells (hPDL-MSCs) which act in the acute phase of periodontal infection.</p></div><div><h3>Design</h3><p>The capability of the bacteria to induce an inflammatory response as well as their viability, cellular adhesion and invasion were analyzed upon mono- and co-infections of hPDL-MSCs to delineate potential synergistic or antagonistic effects. The expression level and concentration of interleukin (IL)−6, IL-8 and monocyte chemoattractant protein (MCP)−1 were measured using qRT-PCR and ELISA. Viability, invasion, and adhesion were determined quantitatively using agar plate culture and qualitatively by confocal microscopy.</p></div><div><h3>Results</h3><p>Viability of <em>P. gingivalis</em> and <em>T. forsythia</em> but not <em>F. nucleatum</em> was preserved in the presence of hPDL-MSCs, even in an oxygenated environment. <em>F. nucleatum</em> significantly increased the expression and concentration of IL-6, IL-8 and MCP-1 in hPDL-MSCs, while <em>T. forsythia</em> and <em>P. gingivalis</em> caused only a minimal inflammatory response. Co-infections in different combinations had no effect on the inflammatory response. Moreover, <em>P. gingivalis</em> mitigated the increase in cytokine levels elicited by <em>F. nucleatum</em>. Both red-complex bacteria adhered to and invaded hPDL-MSCs in greater numbers than <em>F. nucleatum</em>, with only a minor effect of co-infections.</p></div><div><h3>Conclusions</h3><p>Oral bacteria of different pathogenicity status interact differently with hPDL-MSCs. The data support <em>P</em>. <em>gingivalis’</em> capability to manipulate the inflammatory host response. Further research is necessary to obtain a comprehensive picture of the role of hPDL-MSCs in more complex oral biofilms.</p></div>","PeriodicalId":8288,"journal":{"name":"Archives of oral biology","volume":"164 ","pages":"Article 106004"},"PeriodicalIF":3.0,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0003996924001250/pdfft?md5=01981263723a96a33e4077b0499e1deb&pid=1-s2.0-S0003996924001250-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141056184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anatomic relationship between the root apex of maxillary molars and maxillary sinus in the presence of antagonist teeth: A Kwak’s method with divisions","authors":"Deniz Yanık ,&nbsp;Ahmet Mert Nalbantoğlu","doi":"10.1016/j.archoralbio.2024.105998","DOIUrl":"10.1016/j.archoralbio.2024.105998","url":null,"abstract":"<div><h3>Objective</h3><p>The purpose of the study was to evaluate the proximity between the root apices of maxillary molars and maxillary sinus floor using cone-beam computed tomography (CBCT) in the southern Turkish subpopulation.</p></div><div><h3>Design</h3><p>For the study, 246 CBCT images were analyzed. The absence of antagonist teeth was excluded. Kwak's types III and V were detailed with three divisions. Division M; the penetration of the mesial root only, Division D; the penetration of the distal root only, and Division MD; the penetration of both buccal roots. The distance between the maxillary sinus and the root apices was measured. Student’s t-test, one-way ANOVA, and chi-square were used for statistical analysis.</p></div><div><h3>Results</h3><p>The penetration of maxillary molars was 24.40%. The highest prevalence belonging to Type I. Division MD was 44.35% for Type III and 40.42% for Type V. Division M was higher than Division D. The distances between the sinus and root apices were 1.35–2.41 mm in Type I. The distance decreased with age (p &lt; 0.05).</p></div><div><h3>Conclusion</h3><p>Both buccal root penetration into the sinus was higher than the single root penetration. The distance of the second molar root apices to the sinus was closer than the first molar. One-quarter of the first and second molars were inside the sinus. A greater likelihood of penetration of the root apices into the sinus with increased age.</p></div>","PeriodicalId":8288,"journal":{"name":"Archives of oral biology","volume":"165 ","pages":"Article 105998"},"PeriodicalIF":3.0,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141037666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Difference in formation of a dental multi-species biofilm according to substratum direction","authors":"Minh-Huy Dang ,&nbsp;Jian-Na Cai ,&nbsp;Hyeon-Mi Choi ,&nbsp;Dongyeop Kim ,&nbsp;Hyo-Won Oh ,&nbsp;Jae-Gyu Jeon","doi":"10.1016/j.archoralbio.2024.106002","DOIUrl":"https://doi.org/10.1016/j.archoralbio.2024.106002","url":null,"abstract":"<div><h3>Objectives</h3><p>The aim of this study was to investigate the difference in dental biofilm formation according to substratum direction, using an artificial biofilm model.</p></div><div><h3>Methods</h3><p>A three-species biofilm, consisting of <em>Streptococcus mutans</em>, <em>Streptococcus oralis</em>, and <em>Actinomyces naeslundii</em>, was formed on saliva-coated hydroxyapatite (sHA) discs oriented in three directions: downward (the discs placed in the direction of gravity), vertical (the discs placed parallel to the direction of gravity), and upward (the discs placed in opposite direction of gravity). The biofilms at 22 h and 46 h of age were analyzed using microbiological and biochemical methods, fluorescence-based assays, and scanning electron microscopy to investigate difference in bacterial adhesion, early and mature biofilm formation.</p></div><div><h3>Results</h3><p>The biofilms formed in the upward direction displayed the most complex structure, with the highest number and biovolume of bacteria, as well as the lowest pH conditions at both time points. The vertical and downward directions, however, had only scattered and small bacterial colonies. In the 22-h-old biofilms, the proportion of <em>S. oralis</em> was similar to, or slightly higher than, that of <em>S. mutans</em> in all directions of substratum surfaces. However, in the 46-h-old biofilms, <em>S. mutans</em> became the dominant bacteria in all directions, especially in the vertical and upward directions.</p></div><div><h3>Conclusions</h3><p>The direction of the substratum surface could impact the proportion of bacteria and cariogenic properties of the multi-species biofilm. Biofilms in an upward direction may exhibit a higher cariogenic potential, followed by those in the vertical and downward directions, which could be related to gravity.</p></div>","PeriodicalId":8288,"journal":{"name":"Archives of oral biology","volume":"164 ","pages":"Article 106002"},"PeriodicalIF":3.0,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140950838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Temporomandibular Joint Disorder: An integrated study of the pathophysiology, neural mechanisms, and therapeutic strategies","authors":"Guofang Lu ,&nbsp;Rui Du","doi":"10.1016/j.archoralbio.2024.106001","DOIUrl":"10.1016/j.archoralbio.2024.106001","url":null,"abstract":"<div><h3>Objective</h3><p>The study aims to investigate Temporomandibular Joint Disorder (TMJD) through a interdisciplinary lens, integrating insights from neuroscience, dentistry, and psychology to dissect its complex pathophysiology and neural mechanisms. It focuses on exploring the neurobiological underpinnings of TMJD, emphasizing the role of pain perception, modulation, and the impact of neurophysiological changes on the disorder.</p></div><div><h3>Design</h3><p>This is a comprehensive narrative review of the literature.</p></div><div><h3>Results</h3><p>Research findings pinpoint altered pain perception and modulation processes as central neural mechanisms contributing to TMJD, highlighting the importance of personalized treatment approaches due to the disorder's complexity and patient variability. The study recognizes advances in neuroscience offering new treatment avenues, such as neuromodulation and biofeedback, which provide non-invasive and personalized options. However, it also addresses the challenges in TMJD research, such as the multifaceted nature of the disorder and the need for more comprehensive, interdisciplinary strategies in research and clinical practice.</p></div><div><h3>Conclusions</h3><p>TMJD is a multifaceted disorder requiring an interdisciplinary approach for effective management. The study stresses the crucial role of neuroscience in understanding and treating TMJD, facilitating the development of innovative treatment strategies. It emphasizes the need for further research, advocating an integrated approach that combines neuroscience, dentistry, and psychology to address TMJD's complexities comprehensively and improve patient care, thereby enhancing the quality of life for affected individuals.</p></div>","PeriodicalId":8288,"journal":{"name":"Archives of oral biology","volume":"164 ","pages":"Article 106001"},"PeriodicalIF":3.0,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140945431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bioinformatics analysis and validation of HAUS6 as a key prognostic gene in squamous cell carcinoma of the tongue","authors":"Zhuoyue Yao ,&nbsp;Jing Chen ,&nbsp;Yue Wang ,&nbsp;Liyu Cao","doi":"10.1016/j.archoralbio.2024.106000","DOIUrl":"https://doi.org/10.1016/j.archoralbio.2024.106000","url":null,"abstract":"<div><h3>Objective</h3><p>To explore the expression of HAUS6 in squamous cell carcinoma of the tongue (TSCC) and its relationship with the clinicopathological features of patients, and to further provide new ideas and therapeutic targets for curing TSCC.</p></div><div><h3>Design</h3><p>The Cancer Genome Atlas (TCGA) database was used to screen for differentially expressed genes (DEGs) between TSCC and normal tissues and survival analysis. DEGs of <em>HAUS6</em> were screened and analyzed for GO, KEGG and GSEA enrichment. Exploring the correlation of <em>HAUS6</em> with immune cell infiltration and immune checkpoint-related genes. The expression of HAUS6 in tumor and paraneoplastic tissues was confirmed by immunohistochemistry and Western Blot.</p></div><div><h3>Results</h3><p>Analysis of the TCGA database results showed that expression of <em>HAUS6</em> mRNA was significantly enhanced and correlated with overall survival (OS, <em>p</em> &lt; 0.05) in TSCC. <em>HAUS6</em> expression correlated with the level of immune cell infiltration and immune checkpoint-related genes. Immunohistochemistry and Western Blot confirmed that the expression level of HAUS6 protein was significantly higher in tumor tissues than in paraneoplastic tissues, and that tumor size and hypo-differentiation were higher in the HAUS6 high expression group than in the low expression group in TSCC (<em>p</em> &lt; 0.05).</p></div><div><h3>Conclusions</h3><p>In conclusion, these analyses suggest that HAUS6 can act as an independent predictor of prognosis (<em>p</em> &lt; 0.05) and high HAUS6 expression is strongly associated with poor prognosis.</p></div>","PeriodicalId":8288,"journal":{"name":"Archives of oral biology","volume":"164 ","pages":"Article 106000"},"PeriodicalIF":3.0,"publicationDate":"2024-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0003996924001213/pdfft?md5=dbb2a1ae1a60324f8f55737cea0f04db&pid=1-s2.0-S0003996924001213-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140950839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transition of endochondral bone formation at the normal and botulinum-treated mandibular condyle of growing juvenile rat","authors":"Hye-Jin Tak ,&nbsp;Joo-Won Moon ,&nbsp;Jae-Young Kim ,&nbsp;Sang-Hoon Kang ,&nbsp;Sang-Hwy Lee","doi":"10.1016/j.archoralbio.2024.105999","DOIUrl":"10.1016/j.archoralbio.2024.105999","url":null,"abstract":"<div><h3>Objective</h3><p>The aim of this study was to understand the temporal and spatial distribution of canonical endochondral ossification (CEO) and non-canonical endochondral ossification (NCEO) of the normal growing rat condyle, and to evaluate their histomorphological changes following the simultaneous hypotrophy of the unilateral masticatory closing muscles with botulinum toxin (BTX).</p></div><div><h3>Design</h3><p>46 rats at postnatal 4 weeks were used for the experiment and euthanized at postnatal 4, 8, and 16 weeks. The right masticatory muscles of rats in experimental group were injected with BTX, the left being injected with saline as a control. The samples were evaluated using 3D morphometric, histological, and immunohistochemical analysis with three-dimensional regional mapping of endochondral ossifications.</p></div><div><h3>Results</h3><p>The results showed that condylar endochondral ossification changed from CEO to NCEO at the main articulating surface during the experimental period and that the BTX-treated condyle presented a retroclined smaller condyle with an anteriorly-shifted narrower articulating surface. This articulating region showed a thinner layer of the endochondral cells, and a compact distribution of flattened cells. These were related to the load concentration, decreased cellular proliferation with thin cellular layers, reduced extracellular matrix, increased cellular differentiation toward the osteoblastic bone formation, and accelerated transition of the ossification types from CEO to NCEO.</p></div><div><h3>Conclusion</h3><p>The results suggest that endochondral ossification under loading tended to show more NCEO, and that masticatory muscular hypofunction by BTX had deleterious effects on endochondral bone formation and changed the condylar growth vector, resulting in a retroclined, smaller, asymmetrical, and deformed condyle with thin cartilage.</p></div>","PeriodicalId":8288,"journal":{"name":"Archives of oral biology","volume":"164 ","pages":"Article 105999"},"PeriodicalIF":3.0,"publicationDate":"2024-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141039557","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel mutation in GPR68 causes hypomaturation amelogenesis imperfecta","authors":"Shunlan Yu ,&nbsp;Dandan Liu ,&nbsp;Changqing Yan,&nbsp;Chao Yuan,&nbsp;Chenying Zhang ,&nbsp;Shuguo Zheng","doi":"10.1016/j.archoralbio.2024.105991","DOIUrl":"10.1016/j.archoralbio.2024.105991","url":null,"abstract":"<div><h3>Objectives</h3><p>To identify the genetic cause of a Chinese family with hypomaturation amelogenesis imperfecta (AI) and to characterize the structure of <em>GPR68</em> mutated enamel in order to develop a deeper understanding of the role of the GPR68 protein during the intricate process of amelogenesis.</p></div><div><h3>Design</h3><p>One Chinese family with generalized hypomaturation AI was recruited. Two of the third molars from the proband were subjected to scanning electron microscopy (SEM) and energy dispersive X-ray spectroscopy (EDX). Whole exome sequencing (WES) was performed, and the identified mutation was confirmed by Sanger sequencing. Bioinformatics studies were further conducted to analyze the potential deleterious effects of the mutation.</p></div><div><h3>Results</h3><p>The proband presented with a hypomaturation AI phenotype, characterized by fragile and discolored enamel surface. The AI enamel showed prismatic structure, which was sporadically obscured by areas of amorphous material and porous structure. EDX analysis showed the proband’s enamel demonstrated a significant decrease in calcium and phosphorus content and a significant increase in oxygen compared with normal enamel. A novel homozygous mutation of <em>G protein-coupled receptor 68 (GPR68)</em> (c .149 T &gt; A, p.Ile50Asn) was identified in the proband. Bioinformatics analysis indicated that the mutation site displayed a high level of evolutionary conservation among species, and the mutation might impact the stability and conformation of the protein.</p></div><div><h3>Conclusion</h3><p>The novel homozygous <em>GPR68</em> mutation resulted in hypomaturation AI. We first described the effect of <em>GPR68</em> mutation on enamel structure. Our results provide new genetic evidence that mutations involved in <em>GPR68</em> contribute to hypomaturation AI.</p></div>","PeriodicalId":8288,"journal":{"name":"Archives of oral biology","volume":"164 ","pages":"Article 105991"},"PeriodicalIF":3.0,"publicationDate":"2024-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140960428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}