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1.
J Stomatol Oral Maxillofac Surg ; : 101971, 2024 Jul 18.
Artículo en Inglés | MEDLINE | ID: mdl-39032644

RESUMEN

OBJECTIVE: Head and neck squamous cell carcinoma (HNSCC) present a significant challenge in the medical field due to treatment resistance, which often hinders successful outcomes. The dysregulation of the LRP1B gene is linked to various cancers, but its specific role in HNSCC is poorly understood. METHODS: This study investigated the link between pathogenic loss-of-function mutations in the LRP1B gene and survival outcomes in HNSCC patients. The Cancer Genome Atlas HNSCC cohort, comprised of 520 tumor and 44 normal tissues, was analyzed using cBioportal, and UALCAN tools. Expression patterns, survival outcomes, and clinical correlations of LRP1B were evaluated. In-depth analyses involved validation of mRNA expression using RT-qPCR and functional exploration using various in-silico tools. RESULTS: Analysis of data from The Cancer Genome Atlas (TCGA) and cBioPortal revealed a high frequency (25 %) of LRP1B mutations in HNSCC patients. Notably, splice mutation, truncating mutation, and deep deletion, considered potential drivers, are commonly associated with LRP1B mutations. Patients with LRP1B mutations also exhibit poorer overall survival rates compared to those without these mutations. Furthermore, LRP1B mRNA expression is significantly reduced in HNSCC tissues compared to normal tissues and is correlated with advanced tumor stage, higher tumor grade, and nodal metastasis. CONCLUSION: These findings indicate that LRP1B may function as both a prognostic biomarker and a therapeutic target in HNSCC patients.

2.
J Oral Biol Craniofac Res ; 14(5): 494-499, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39050526

RESUMEN

Objective: To investigate the potential role of a novel m6A RNA regulator, Insulin-like Growth Factor-2 mRNA-binding protein 1 (IGF2BP1), in periodontal disease pathogenesis. Materials and methods: Gingival tissue samples from 60 periodontitis patients and 60 healthy individuals were analyzed for IGF2BP1 mRNA and protein expression via real-time quantitative PCR (RT-qPCR) and Western blotting. Additionally, Porphyromonas gingivalis Lipopolysaccharide (Pg-LPS) -induced human gingival fibroblasts (HGFs) were evaluated for IGF2BP1 and proinflammatory cytokine expression. In silico functional analysis further explored potential molecular mechanisms. Results: IGF2BP1 mRNA and protein levels were significantly higher in the periodontitis group compared to the healthy group. Functional analysis implicated IGF2BP1 in regulating the IL-17 signaling pathway, a key player in inflammation. Pg-LPS treatment upregulated IGF2BP1 and proinflammatory cytokines in HGFs, supporting this finding. Conclusion: Our study suggests that IGF2BP1 overexpression contributes to periodontitis pathogenesis, potentially through IL-17 signaling. Further research is needed to elucidate the precise molecular mechanisms and explore IGF2BP1 as a potential therapeutic target or biomarker for this common oral disease.

3.
J Pharmacopuncture ; 27(2): 91-100, 2024 Jun 30.
Artículo en Inglés | MEDLINE | ID: mdl-38948309

RESUMEN

Objectives: Candida albicans is an opportunistic pathogen that occurs as harmless commensals in the intestine, urogenital tract, and skin. It has been influenced by a variety of host conditions and has now evolved as a resistant strain. The aim of this study was thus detect the fluconazole resistant C. albicans from the root caries specimens and to computationally evaluate the interactions of an opaque-phase ABC transporter protein with the Psidium guajava bio-active compounds. Methods: 20 carious scrapings were collected from patients with root caries and processed for the isolation of C. albicans and was screened for fluconazole resistance. Genomic DNA was extracted and molecular characterization of Cdrp1 and Cdrp2 was done by PCR amplification. P. guajava methanolic extract was checked for the antifungal efficacy against the resistant strain of C. albicans. Further in-silico docking involves retrieval of ABC transporter protein and ligand optimization, molinspiration assessment on drug likeness, docking simulations and visualizations. Results: 65% of the samples showed the presence of C.albicans and 2 strains were fluconazole resistant. Crude methanolic extract of P. guajava was found to be promising against the fluconazole resistant strains of C. albicans. In-silico docking analysis showed that Myricetin was a promising candidate with a high docking score and other drug ligand interaction scores. Conclusion: The current study emphasizes that bioactive compounds from Psidium guajava to be a promising candidate for treating candidiasis in fluconazole resistant strains of C. albicans However, further in-vivo studies have to be implemented for the experimental validation of the same in improving the oral health and hygiene.

4.
J Oral Pathol Med ; 2024 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-38939970

RESUMEN

BACKGROUND: Emerging research has identified the N6-methyladenosine (m6A) modification and its regulatory enzymes, including methyltransferase 5 (METTL5), as critical players in cancer biology. However, the role of METTL5 in oral squamous cell carcinoma (OSCC) remains poorly understood. MATERIALS AND METHODS: We conducted a comprehensive study to investigate the expression and implications of METTL5 in OSCC. We recruited 76 OSCC patients to analyze METTL5 mRNA and protein expression using RT-qPCR and western blot. Additionally, we analyzed METTL5 expression and its correlation with clinical features, patient prognosis, immune cell infiltration, and biological pathways using the TCGA-HNSCC dataset, which primarily consists of OSCC samples. RESULTS: Our findings revealed significant overexpression of METTL5 in OSCC tissues compared to normal tissues. The high expression of METTL5 is associated with advanced cancer stages, higher tumor grades, nodal metastasis, and poorer patient outcomes, indicating its involvement in cancer progression. In silico functional analysis revealed that METTL5 plays a role in multiple biological pathways, highlighting its importance in cancer biology. Moreover, METTL5 has complex relationships with immune regulatory genes, suggesting its potential role in shaping the tumor immune microenvironment. CONCLUSION: METTL5 is a promising candidate for the prognosis and therapeutic intervention of OSCC. Its overexpression in cancer tissues, association with clinical features, and intricate links to immune regulatory networks underscore its significance in this malignancy. This study contributes to a deeper understanding of the complex factors influencing OSCC, and provides a foundation for future research and potential clinical applications.

5.
Artículo en Inglés | MEDLINE | ID: mdl-38816308

RESUMEN

OBJECTIVE: To address the molecular markers linked to the development and progression of oral squamous cell carcinoma (OSCC), we sought to analyze the expression of vasodilator-stimulated phosphoproteins (VASP) in OSCC samples. STUDY DESIGN: This study used 51 OSCC patients and The Cancer Genome Atlas-Head and Neck Squamous Cell Carcinoma (TCGA-HNSC) dataset to analyze VASP expression. The association between VASP mRNA expression and HNSCC clinicopathological features, tumor infiltration, functional roles, and gene co-expression of VASP also were evaluated. RESULTS: Our study observed increased VASP mRNA expression in OSCC tumor tissues compared to normal tissues, supported by TCGA-HNSC dataset analysis. Elevated VASP levels correlated with advanced tumor stage, higher grade, nodal metastasis, and poor survival, indicating its potential as a prognostic marker. Protein analysis and immunohistochemistry confirmed these findings, and in silico analysis revealed VASP involvement in key cancer-related processes and its correlation with IL8, RAP1A expression, and tumor infiltration levels. CONCLUSIONS: In conclusion, VASP emerges as a promising diagnostic and prognostic marker for OSCC within HNSCC, emphasizing the importance of exploring its regulatory mechanisms and therapeutic applications. The revealed pathways present avenues for targeted treatment in OSCC. Despite limitations, this study provides valuable insights with potential implications for improving patient outcomes.

6.
Odontology ; 2024 Apr 04.
Artículo en Inglés | MEDLINE | ID: mdl-38575815

RESUMEN

Abnormal expression of SEC14L2 has been implicated in many human cancers. However, the role of SEC14L2 in oral squamous cell carcinoma (OSCC) remains unclear. Therefore, this study aimed to evaluate the expression and prognostic roles of SEC14L2 in OSCC. OSCC tumors and adjacent non-tumors were collected from OSCC patients and used for SEC14L2 mRNA expression by quantitative reverse transcription PCR (RT-qPCR). Additionally, the expression of SEC14L2 was further analyzed using The Cancer Genome Atlas-Head Neck Squamous Cell Carcinoma (TCGA-HNSCC) dataset to identify its relationship with HNSCC clinical characteristics. The Kaplan-Meier plot was used to assess survival rates, and the Tumor Immune Estimation Resource (TIMER) database was used to examine the correlation between SEC14L2 expression and tumor immune cell infiltration. In silico tools also looked at SEC14L2 involvement in cancer pathways through its protein network. The mRNA and protein levels of SEC14L2 are notably higher in both OSCC and HNSCC tissues compared to adjacent normal tissues. Upregulation of SEC14L2 was associated with advanced tumor stages, grades, metastasis, HPV-negative, and TP53 mutations in cancer patients. In addition, the high expression of SEC14L2 was negatively correlated with the poor survival of cancer patients and the infiltration of diverse immune cells in cancer patients. According to the findings of this investigation, SEC14L2 is significantly elevated in OSCC/HNSCC patients and associated with a worse prognosis. More investigation and clinical studies are required to completely understand the therapeutic potential of SEC14L2 in HNSCC and convert these findings into better patient outcomes.

7.
Arch Oral Biol ; 161: 105926, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38442472

RESUMEN

OBJECTIVE: The objective of this study is to investigate the significance and impact of Triggering Receptor Expression on Myeloid Cells-1 (TREM-1) in the context of oral squamous cell carcinoma (OSCC). METHODS: This study involved 51 OSCC patients, 21 oral epithelial dysplasia patients (OED), and the TCGA-HNSCC dataset. TREM1 expression was analyzed using quantitative reverse transcription PCR (RT-qPCR), and Western blot. Furthermore, we assessed TREM1 expression for clinicopathological, prognosis, and immune infiltration correlations utilizing publicly available TCGA-HNSCC datasets through UALCAN, Protein Atlas, Kaplan-Meier plot, TIMER2.0, and TISIDB. We also conducted bioinformatic analyses for functional enrichment employing publicly accessible datasets. RESULTS: TREM1 was significantly upregulated in OSCC and OED when compared to normal tissues, confirmed through multiple methods. Analysis of clinicopathological features showed associations with disease stage, grade, nodal metastasis, HPV status, and TP53 mutation. High TREM1 expression correlated with poorer patient survival. TREM1 was linked to immune cell infiltration and immune-related pathways. CONCLUSION: TREM1 is significantly upregulated in OSCC and is associated with poor clinicopathological features and survival. It may hold promise as a therapeutic target and prognostic marker in OSCC. Further research is needed to understand its functional role in OSCC.


Asunto(s)
Carcinoma de Células Escamosas , Neoplasias de Cabeza y Cuello , Neoplasias de la Boca , Humanos , Carcinoma de Células Escamosas de Cabeza y Cuello , Carcinoma de Células Escamosas/genética , Receptor Activador Expresado en Células Mieloides 1/genética , Pronóstico , Neoplasias de la Boca/genética , Células Mieloides , Biomarcadores
8.
J Stomatol Oral Maxillofac Surg ; 125(3S): 101811, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38432483

RESUMEN

BACKGROUND/PURPOSE: Head and neck squamous cell carcinoma (HNSCC) is the sixth leading cause of cancer-related death worldwide and contributes significantly to the burden of disease in South Asia, partially due to the lack of effective screening strategies. Identifying essential biomarkers is crucial for improved prognosis and treatment. This study investigates the potential of SERPINH1 as a prognostic marker in HNSCC, highlighting its significance amidst the molecular complexity. METHODS: The Cancer Genome Atlas HNSCC cohort, comprised of 520 tumors and 44 normal tissues, was analyzed using cBioportal, UALCAN, and Protein atlas tools. Expression patterns, survival outcomes, and clinical correlations of SERPINH1 were evaluated. In-depth analyses involved oral squamous cell carcinoma (OSCC) patient samples, protein expression, and functional exploration using various in-silico tools. RESULTS: SERPINH1 exhibited significant alteration and upregulation in HNSCC and OSCC, indicating its pan-cancer potential. Immunohistochemistry confirmed its overexpression in primary HNSCC tumors. Association analyses linked altered SERPINH1 levels with tumor stage, grade, metastasis, human papillomavirus (HPV) status, and patient prognosis. Functional analyses unveiled SERPINH1's involvement in critical cellular pathways and interactions with various proteins. CONCLUSION: The significant alteration of SERPINH1 associated with upregulated expression in HNSCC and OSCC positions it as a promising diagnostic and prognostic marker. Further investigations are warranted to elucidate the underlying molecular mechanisms, paving the way for targeted therapeutic interventions and continued exploration of various malignancies.


Asunto(s)
Biomarcadores de Tumor , Proteínas del Choque Térmico HSP47 , Neoplasias de Cabeza y Cuello , Carcinoma de Células Escamosas de Cabeza y Cuello , Humanos , Carcinoma de Células Escamosas de Cabeza y Cuello/patología , Carcinoma de Células Escamosas de Cabeza y Cuello/diagnóstico , Carcinoma de Células Escamosas de Cabeza y Cuello/metabolismo , Biomarcadores de Tumor/metabolismo , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/genética , Masculino , Femenino , Neoplasias de Cabeza y Cuello/patología , Neoplasias de Cabeza y Cuello/metabolismo , Neoplasias de Cabeza y Cuello/diagnóstico , Pronóstico , Proteínas del Choque Térmico HSP47/metabolismo , Proteínas del Choque Térmico HSP47/genética , Persona de Mediana Edad , Regulación hacia Arriba , Regulación Neoplásica de la Expresión Génica , Inmunohistoquímica , Anciano , Estadificación de Neoplasias
9.
Odontology ; 112(3): 950-958, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38216818

RESUMEN

Oral squamous cell carcinoma (OSCC) is a globally prevalent cancer with significant mortality rates. OSCC a predominant subtype of head and neck squamous cell carcinoma (HNSCC), poses a substantial health burden. Despite advancements in diagnosis and therapy, OSCC prognosis remains poor. The 26S proteasome, a cellular protein degradation complex, is associated with cancer, including PSMA1, a proteasomal subunit, which is upregulated in various cancers. We analyzed PSMA1 expression using TCGA data, validated it in OSCC samples using real-time PCR, and explored its role through various databases. Tumor and adjacent normal tissues from OSCC patients were examined, and PSMA1 expression was analyzed. Survival analysis assessed the impact of PSMA1 on patient outcomes, while immune infiltration was examined using the TIMER database. GeneMANIA, STRING, and Metascape were utilized for gene interaction and pathway analysis. PSMA1 was significantly upregulated in OSCC and HNSCC. Its overexpression correlated with advanced clinicopathological features and poorer prognosis in HNSCC patients. PSMA1 expression is also related to immune cell infiltration. Gene interaction analysis revealed PSMA1 involvement in proteolysis regulation, suggesting its potential as a therapeutic target. PSMA1 upregulation in HNSCC association with adverse clinicopathological features and prognosis underscores its potential significance. Further research is warranted to elucidate its molecular mechanisms and therapeutic potential in OSCC management.


Asunto(s)
Neoplasias de la Boca , Humanos , Neoplasias de la Boca/patología , Neoplasias de la Boca/genética , Neoplasias de la Boca/metabolismo , Pronóstico , Masculino , Femenino , Persona de Mediana Edad , Regulación hacia Arriba , Biomarcadores de Tumor/metabolismo , Reacción en Cadena en Tiempo Real de la Polimerasa , Carcinoma de Células Escamosas/patología , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/metabolismo , Complejo de la Endopetidasa Proteasomal/metabolismo , Complejo de la Endopetidasa Proteasomal/genética , Anciano , Carcinoma de Células Escamosas de Cabeza y Cuello/genética , Carcinoma de Células Escamosas de Cabeza y Cuello/patología , Carcinoma de Células Escamosas de Cabeza y Cuello/metabolismo , Análisis de Supervivencia , Antígenos de Superficie , Glutamato Carboxipeptidasa II
10.
Mol Biol Res Commun ; 13(1): 21-27, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38164368

RESUMEN

Epigenetic factors are known to markedly influence the functions of a gene by modification of transcripts, via methylation or acetylation and degradation of mRNA transcripts. The CDKN2A encodes cyclin-dependent kinase inhibitor 2A, a tumour suppressor protein. Genetic and epigenetic alterations in this gene have been demonstrated in several cancer types. The non-coding RNAs with a special emphasis on microRNAs have long been explored for their potential role in the epigenetic modification of gene expression. The present study aims to identify the microRNAs targeting CDKN2A gene transcripts and demonstrate their prognostic significance in head and neck squamous cell carcinoma (HNSCC). Computational approaches were employed to identify the microRNAs targeting CDKN2A. The gene and protein expression profile of CDKN2A was analyzed using UALCAN. A significant upregulation of CDKN2A was observed in the primary tumour tissues (p=<10-12). Interestingly, the protein expression, although found to be statistically significant (p=0.0129) did not correlate well with the gene expression profile. The microRNAs targeting CDKN2A were further analyzed to identify the possible reason for the decrease in protein expression. Among the 44 microRNAs targeting CDKN2A gene transcripts, hsa-miR-3681-3p, hsa-miR-542-5p, hsa-miR-4519 were found to be upregulated and hsa-miR-134-5p was found to be downregulated with a significant association with survival status of HNSCC patients. The hsa-miR-542-5p was found to correlate well with the survival and hence can be considered as the key microRNA associated with HNSCC. However, further validation of this microRNA is warranted to confirm its role in the process of carcinogenesis.

11.
Artículo en Inglés | MEDLINE | ID: mdl-38155009

RESUMEN

OBJECTIVE: This study focused on EXT2, a member of the EXT family involved in heparan sulfate synthesis, to evaluate its potential as a prognostic and predictive biomarker in head-neck squamous cell carcinoma (HNSCC). MATERIALS AND METHODS: The present study used the cancer genome atlas head-neck squamous cell carcinoma (TCGA-HNSC) dataset-based UALCAN database to analyze the EXT2 expression and its clinicopathological features. In addition, we recruited 51 oral squamous cell carcinoma patients (OSCC), the most common HNSCC subtype, to validate the EXT2 mRNA expression analysis. In addition, we identified the role of EXT2 in prognosis using a Kaplan-Meier plot and immune signature using the tumor infiltration level. Furthermore, functional roles were analyzed using the EXT2 gene and protein networks. RESULTS: The expression of EXT2 mRNA was significantly upregulated in OSCC tumors, which is consistent with the UALCAN-based results. EXT2 protein was also significantly overexpressed in HNSCC samples and was correlated with clinicopathological features. High EXT2 expression is associated with poor survival outcomes in HNSCC patients. Functional analysis of EXT2 using in silico tools revealed its involvement in critical pathways, including Wnt signaling, proteoglycans in cancer, and cellular responses to fibroblast growth and inflammation. CONCLUSION: These findings highlight the potential of EXT2 as a prognostic and predictive biomarker of HNSCC.


Asunto(s)
Carcinoma de Células Escamosas , Neoplasias de Cabeza y Cuello , Neoplasias de la Boca , Humanos , Biomarcadores , Carcinoma de Células Escamosas/genética , Neoplasias de Cabeza y Cuello/genética , Pronóstico , ARN Mensajero , Carcinoma de Células Escamosas de Cabeza y Cuello
12.
J Oral Biol Craniofac Res ; 14(1): 1-7, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38075236

RESUMEN

Background: A significant percentage of the world is distressed due to the widespread and aggressive head and neck squamous cell carcinoma (HNSCC). The prognosis for people with HNSCC remains grim, despite progress in treatment techniques. This underscores the pressing demand for the discovery of novel biomarkers to enable early detection and improve prognostic categorization. Objective: The present study aims to identify the expression of the PNMA1 gene in HNSCC with clinicopathological characteristics, prognosis, and association of immune cells infiltration. Methods: The TCGA-HNSCC dataset first evaluated PNMA1 expression and its relationship to clinical aspects of HNSCC. Following that, oral squamous cell carcinoma (OSCC), a primary HNSCC type, is used to validate PNMA1 mRNA expression, via quantitative reverse transcription PCR (RT-qPCR). The Kaplan-Meier plot was used to assess survival rates, and the Tumour Immune Estimation Resource (TIMER) database was used to examine the relationship between PNMA1 and immune cells infiltration. Results: The expression of PNMA1 significantly increased in HNSCC and OSCC tumors. Significant correlations have been found between the increased PNMA1 expression and clinicopathological characteristics of HNSCC, such as tumor stage, grade, metastasis, HPV status and patient survival. PNMA1 expression also correlated with immune cell infiltration and immune regulator genes. Conclusion: In conclusion, the present study demonstrated that the PNMA1 expression significantly increased in HNSCC and was associated with HNSCC patient's prognosis. Hence, PNMA1 could serve as a novel prognostic biomarker and a promising therapeutic target for HNSCC.

13.
J Stomatol Oral Maxillofac Surg ; 125(4): 101734, 2023 Dec 10.
Artículo en Inglés | MEDLINE | ID: mdl-38072235

RESUMEN

BACKGROUND/PURPOSE: Dynein Cytoplasmic 1 Intermediate Chain 1 (DYNC1I1) is a crucial cytoplasmic dynein binding component, its high expression levels are associated with malignant progression and poor survival in different types of cancer; however, the oncogenic role of DYNC1I1 in Head and neck squamous cell carcinomas (HNSCC) remains to be elucidated. In our present study, we aimed to explore the potential role of DYNC1I1 expression in the tumorigenesis of HNSCC and the shaping of the immune microenvironment. MATERIALS AND METHODS: The expression levels of DYNC1I1 were analyzed in The Cancer Genome Atlas Head-Neck Squamous Cell Carcinoma (TCGA-HNSC) dataset, and then real-time quantitative polymerase chain reaction (RT-qPCR) was used to validate the DYNC1I1 expression in oral squamous cell carcinoma (OSCC) tumor samples, one of the major types of HNSCC. The functional pathway, tumor immune infiltration, and gene expression correlation for DYNC1I1 were performed using different bioinformatic tools. RESULTS: We found that the expression of DYNC1I1 was significantly increased in HNSCC and was a predictor of poor survival. The DYNC1I1 high expression has also been associated with an increased risk of HPV-negative HNSCC and decreased immune cell infiltration. Functional enrichment analysis identified that DYNC1I1 is involved in several important signaling pathways that contribute to the cancer cell's survival and proliferation. CONCLUSION: Our findings indicate that DYNC1I1 plays an important role in the tumorigenesis of HNSCC, and could be a promising prognostic biomarker for HNSCC diagnosis and treatment.

15.
Clin Oral Investig ; 27(11): 6961-6969, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37861747

RESUMEN

OBJECTIVE: Head and neck squamous cell carcinoma (HNSCC) is a prevalent cancer that originates from the squamous cells. The role of the replication factor C subunit 3 (RFC3) in HNSCC progression remains elusive. The aim of this study was to uncover RFC3 significance in HNSCC. METHODS: The Cancer Genome Atlas (TCGA-HNSCC) dataset was initially used to assess RFC3 expression and its association with HNSCC clinical features. Subsequently, quantitative reverse transcription PCR (RT-qPCR) confirmed RFC3 mRNA expression in oral squamous cell carcinoma (OSCC), a primary HNSCC type. Survival rates were evaluated using the Kaplan-Meier plot, while the Tumor Immune Estimation Resource (TIMER) database probed RFC3-immune cell interaction. Additionally, in silico tools were used to examine the RFC3 protein network and engagement in HNSCC pathways. RESULTS: RFC3 expression is significantly upregulated in HNSCC, including OSCC. Upregulated RFC3 expression was significantly correlated with the clinicopathological features of HNSCC, including tumor stage, grade, metastasis, and patient survival. RFC3 is also associated with immune cell infiltration. Functional analysis has highlighted its involvement in DNA replication, mismatch repair, and cell cycle pathways. Interestingly, RFC3 high expression is linked to well-known oncogenic signaling pathways, such as MYC/MYCN, HIPPO, and mTOR. CONCLUSIONS: In conclusion, RFC3 can be considered a novel prognostic biomarker for HNSCC, and further studies on its functional mechanisms may help to use RFC3 as a therapeutic target for HNSCC. CLINICAL RELEVANCE: The clinical relevance of this study lies in identifying RFC3 as a novel biomarker and prognostic indicator for HNSCC, offering insights that could impact future clinical approaches.


Asunto(s)
Carcinoma de Células Escamosas , Neoplasias de Cabeza y Cuello , Neoplasias de la Boca , Humanos , Carcinoma de Células Escamosas de Cabeza y Cuello , Carcinoma de Células Escamosas/patología , Pronóstico , Proteína de Replicación C/metabolismo
16.
Mol Biol Res Commun ; 12(4): 133-137, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37886736

RESUMEN

The present study aims to determine the association between a genetic polymorphism of GSTP1 (rs1695) and the risk of periodontitis. This study used a cross-sectional design and included subjects from the South Indian population. A total of 100 individuals enrolled at Saveetha Dental College and Hospital, Tamil Nadu were included in this study. The participants were divided into control (n=50) and periodontitis (n=50) based on clinical examination. Blood samples were collected. Genotyping was performed using specific primers spanning the polymorphic site. The genotypic frequencies for the rs1695 polymorphism were not significantly different between cases and controls.

17.
J Stomatol Oral Maxillofac Surg ; 124(6S): 101617, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37666484

RESUMEN

BACKGROUND: Head and neck squamous cell carcinoma (HNSCC) is one of the most aggressive types of cancers worldwide, with metastasis being the major cause of death. Recent research suggests that changes in the expression of MRC2 (mannose receptor, C-type 2) may play a role in the development and progression of various cancers; however, its expression pattern in HNSCC/ OSCC is unknown. This study aimed to elucidate the clinicopathological significance and prognostic role of MRC2 expression in HNSCC, including OSCC. MATERIALS AND METHODS: In the present study, we assessed the potential roles of MRC2 in expression, prognostic value, immune infiltration and functional enrichment analysis in HNSCC patients by using different bioinformatics databases. We then validated MRC2 gene expression in 30 OSCC and adjacent normal tissue samples using quantitative reverse transcription PCR (RT-qPCR). RESULTS: MRC2 mRNA and protein expression were significantly upregulated in OSCC and HNSCC patients compared to that in adjacent normal tissues. Upregulated MRC2 expression was associated with poor overall survival. Increased MRC2 expression has also been linked to an aggressive clinicopathological features including advanced stages, grade, metastasis and HPV status. Interestingly, our in silico results strongly suggest that the MRC2 gene and protein interaction networks are associated with HNSCC development. Moreover, the tumor infiltration level was significantly correlated with HPV-negative HNSCC patients. CONCLUSION: Our results suggest that MRC2 could be used as a novel prognostic marker and therapeutic target for HNSCC.


Asunto(s)
Neoplasias de Cabeza y Cuello , Infecciones por Papillomavirus , Humanos , Carcinoma de Células Escamosas de Cabeza y Cuello/diagnóstico , Carcinoma de Células Escamosas de Cabeza y Cuello/genética , Pronóstico , Neoplasias de Cabeza y Cuello/diagnóstico , Neoplasias de Cabeza y Cuello/genética
18.
J Oral Biol Craniofac Res ; 13(5): 563-566, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37559689

RESUMEN

Objective: N6-methyladenosine (m6A) methylation and its regulators play crucial roles in the progression of osteoporosis (OP) by regulating the expression of osteoporosis-related genes. In this study, we have analyzed the expression of methyltransferase-like 3 (METTL3) and its target gene Runt-related transcription factor 2 (RUNX2) in patients with residual ridge resorption (RRR). Materials and methods: A total 50 number of participants were included in this comparative study (RRR - n25 and healthy control - n25). Total RNA was extracted from peripheral blood and converted into cDNA. METTL3 and RUNX2 expression levels were quantified using RT-qPCR with GAPDH as the reference gene. Bioinformatics tools were used to identify gene functions and pathways. Results: Real-time polymerase chain reaction (qPCR) revealed that METTL3 and RUNX2 expression was downregulated in the RRR group compared to that in healthy controls (P < 0.05). In silico functional analysis provided information regarding the role of METTL3 in various biological processes. Conclusion: Our findings suggest that METTL3 dysregulation contributes to RRR pathogenesis. Further large-scale samples and functional studies are required to identify their therapeutic potential.

19.
J Stomatol Oral Maxillofac Surg ; 124(6S): 101550, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37437661

RESUMEN

BACKGROUND: N6-methyladenosine (m6A) RNA modification and its regulatory enzymes play important roles in the modulation of inflammation by regulating inflammation-related gene expression. Dysregulation of m6A has been associated with inflammatory diseases, including periodontitis. This study aimed to investigate the potential role of m6A modification and its master regulatory enzyme METTL3 in patients with peri­implantitis. MATERIALS AND METHODS: Peri-implant soft tissues from 20 subjects (10 healthy controls and 10 patients with peri­implantitis) were enrolled in this study. Quantitative reverse transcription PCR (RT-qPCR) was used to detect METTL3 gene expression and western blotting was used to detect METTL3 protein expression. The m6A mRNA levels were measured using an m6A-RNA methylation quantification kit. Protein-protein interaction networks and in silico functional analyses were conducted using various bioinformatics tools. RESULTS: m6A mRNA levels significantly increased in the peri­implantitis group. Higher METTL3 mRNA and protein levels were observed in the peri­implantitis group. High METTL3 expression might influence elevated levels of m6A RNA methylation. In addition, in silico functional analysis indicated that the METTL3 gene and protein were associated with inflammatory pathways. CONCLUSIONS: Our data provide evidence, for the first time, that dysregulation of m6A modification is associated with peri­implantitis and may represent a strong risk factor for this inflammatory disease.


Asunto(s)
Periimplantitis , Humanos , Metilación , Proyectos Piloto , Periimplantitis/genética , Inflamación , ARN Mensajero/genética , ARN/metabolismo , Metiltransferasas/genética , Metiltransferasas/metabolismo
20.
J Pediatr Genet ; 12(1): 1-15, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36684547

RESUMEN

Biotinidase (BTD) deficiency is a rare autosomal recessive metabolic disorder caused by insufficient biotin metabolism, where it cannot recycle the vitamin biotin. When this deficiency is not treated with supplements, it can lead to severe neurological conditions. Approximately 1 in 60,000 newborns are affected by BTD deficiency. The BTD deficiency causes late-onset biotin-responsive multiple carboxylase deficiency, which leads to acidosis or lactic acidosis, hypoglycemia, and abnormal catabolism. BTD deficiency is of two types based on the amount of BTD Enzyme present in the serum. A wide range of pathogenic mutations in the BTD gene are reported worldwide. Mutations in the BTD gene lead to profound and partial BTD deficiency. Profound BTD deficiency results in a severe pathogenic condition. A high frequency of newborns are affected with the partial deficiency worldwide. They are mostly asymptomatic, but symptoms may appear during stressful conditions such as fasting or viral infections. Several pathogenic mutations are significantly associated with neurological, ophthalmological, and skin problems along with several other clinical features. This review discusses the BTD gene mutation in multiple populations detected with phenotypic features. The molecular-based biomarker screening is necessary for the disease during pregnancy, as it could be helpful for the early identification of BTD deficiency, providing a better treatment strategy. Moreover, implementing newborn screening for the BTD deficiency helps patients prevent several diseases.

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