RESUMO
Aim: The objective was to compare the density and degranulation of mast cells on specimens obtained from individuals diagnosed with gingivitis or chronic periodontitis who were either non-HIV-infected or HIV-infected patients treated with highly active antiretroviral therapy (HAART). Methods: Gingival samples were taken from 16 non-HIV-infected individuals and 17 HIV-infected individuals diagnosed with gingivitis and chronic periodontitis. The samples were processed and tained with 0.3 percent o-toluidine blue. Densities (cells/mm²) and percentages of intact and degranulated mast cells were obtained. Results: No statistically significant differences were observed in the mast cell density and the percentage of degranulated mast cells between non-HIV-infected and HIV-infected individuals diagnosed with gingivitis and chronic periodontitis. Mononuclear inflammatory infiltrate was weakly correlated with the percentage of mast cells degranulated for both groups. Conclusions: There are no differences of the density and degranulation of mast cells in gingival tissue between non-HIV-infected and HIV-infected patients undergoing HAART, both groups with diagnosis of gingivitis or chronic periodontitis. This may be a result of the recovery of the immunologic system by HAART treatment.
Assuntos
Humanos , Masculino , Feminino , Doenças Periodontais , HIV , Periodontite Crônica , Gengivite , Mastócitos , Mucosa BucalRESUMO
BACKGROUND: Activation mutations of SH3BP2 gene have been demonstrated in cherubism and central giant cell lesion (CGCL). In the present study we first attempted to investigate the SH3BP2 gene in peripheral giant cell lesion (PGCL). The effect of SH3BP2 gene mutations on the transcription of the downstream genes nuclear factor of activated T cells (NFATc1) and the cytokine tumor necrosis factor-alpha (TNF-alpha) was also investigated together with the immunolocalization of NFATc1 protein in a set of cases of PGCL, CGCL and cherubism with and without SH3BP2 mutation. METHOD: Fresh samples of five PGCL, five CGCL and one cherubism cases were included in this study. One of the samples of CGCL presented a somatic heterozygous mutation c.1442A>T in exon 11. The cherubism case showed a heterozygotic substitution c.320C>T in both blood and lesion. These mutations were previously published. All coding and flanking regions of the SH3BP2 gene were sequenced in the cases of PGCL. The real-time polymerase chain reaction (RT-PCR) was performed to analyze the transcription of NFATc1 and TNF-alpha genes. The immunohistochemical analysis of the NFATc1 protein was also performed. RESULTS: No SH3BP2 gene mutation was found in PGCL. The RT-PCR showed increased expression of NFATc1 and decreased transcription of TNF-alpha in all the samples. The immunohistochemical analysis of the NFATc1 protein showed a predominant nuclear staining in the multinucleated giant cells. CONCLUSION: The development of giant cells lesions of the jaws and cherubism are possibly mediated by overexpression of NFAT in the nucleus of the multinucleated cells.
Assuntos
Querubismo/genética , Granuloma de Células Gigantes/genética , Doenças Maxilomandibulares/genética , Mutação/genética , Fatores de Transcrição NFATC/genética , Fator de Necrose Tumoral alfa/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Adenosina , Núcleo Celular/ultraestrutura , Querubismo/sangue , Querubismo/patologia , Citosina , Éxons/genética , Regulação da Expressão Gênica/genética , Células Gigantes/patologia , Glutamina/genética , Granuloma de Células Gigantes/patologia , Heterozigoto , Humanos , Doenças Maxilomandibulares/patologia , Leucina/genética , Metionina/genética , Fatores de Transcrição NFATC/análise , Polimorfismo Genético/genética , Treonina/genética , Timina , Transcrição Gênica/genética , Fator de Necrose Tumoral alfa/análise , Domínios de Homologia de src/genéticaRESUMO
BACKGROUND: Ameloblastin (AMBN) gene expresses an important protein that acts as a cell adhesion molecule. This protein plays an important role in maintaining the ameloblast secretory stage of differentiation by binding to them and inhibiting their proliferation. Due to the relationship of this protein in the differentiation and proliferation of odontogenic cells, here, we investigated this gene in different types of odontogenic tumors. MATERIALS AND METHODS: Sequencing of the all encoding region of AMBN gene was carried out in four frozen cases of odontogenic tumors: one case of calcifying epithelial odontogenic tumor (CEOT), two calcifying odontogenic cysts (COC) and one ameloblastic fibroma (AF). RESULTS: DNA sequencing was modified in an important domain of the AMBN only in the CEOT. CONCLUSION: The present study suggests that AMBN gene alterations may be relevant to the pathogenesis of CEOT.
Assuntos
Ameloblastos/patologia , Calcinose/patologia , Proteínas do Esmalte Dentário/genética , Células Epiteliais/patologia , Fibroma/patologia , Mutação/genética , Tumores Odontogênicos/genética , Análise Mutacional de DNA , Humanos , Tumores Odontogênicos/patologiaRESUMO
Cherubism is an autosomal dominant inherited syndrome characterized by excessive bone degradation of upper and lower jaw and its replacement with large amounts of fibrous tissue, which causes a characteristic facial swelling. A correlation with a mutation in the gene SH3BP2 has been previously demonstrated, but a model for its pathogenesis is not yet available. Here we describe a novel mutation in an aggressive case of cherubism located in the pleckstrin homology domain (PH) of the SH3BP2.
Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Querubismo/genética , Mutação , Sequência de Bases , Criança , Análise Mutacional de DNA , Humanos , Masculino , Dados de Sequência Molecular , Domínios de Homologia de srcRESUMO
BACKGROUND: Considerable evidence indicates that serotonergic mechanisms, particularly the serotonin transporter (5-HTT) may be involved in psychiatric alterations. Recent findings have demonstrated that depression and stress are influenced by polymorphism of the promoter region of 5-HTT (5-HTTLPR) and that the short allele (S) is associated with reduced transcriptional efficiency resulting in reduced serotonin expression and uptake. As psychiatric and genetic factors have been implicated in the pathogenesis of oral lichen planus (OLP), the purpose of the present study was to investigate 5-HTTLPR polymorphism in patients with OLP compared to control subjects. SUBJECTS AND METHODS: Fifty-four subjects affected by OLP and 54 healthy volunteers were genotyped at 5-HTTLPR. The chi-squared test was used for statistical analysis. To investigate the association between the single nucleotide polymorphisms and risk of OLP, binary logistic regression models were fitted. RESULTS: No statistical difference was observed between the genotype and allele frequency in the group of OLP and controls (p=0.51). Moreover no association between 5HTTLPR alleles and OLP was found in the multivariate analyses. CONCLUSION: Our study demonstrates that polymorphism on the 5-HTTLPR is not associated with OLP pathogenesis.
Assuntos
Líquen Plano Bucal/genética , Polimorfismo Genético/genética , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Adolescente , Adulto , Idoso , Alelos , Estudos de Casos e Controles , Feminino , Frequência do Gene/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Regiões Promotoras Genéticas/genética , Fatores de RiscoRESUMO
Ossifying fibroma (OF) is a benign neoplasm related to bone characterized by a progressive enlargement of the affected jaw. Recently, the candidate tumor suppressor gene HRPT2 was identified and alterations in this gene were related with the Hyperparathyroidism-jaw tumor syndrome that is characterized by parathyroid adenoma or carcinoma, fibro-osseous lesions (mainly OF) of the jaws, and renal lesions. The purpose of the present study was to evaluate the HRPT2 gene in OF. Tumour and blood samples were obtained from 3 patients with OF and one with juvenile ossifying fibroma (JOF). The results demonstrated three novel mutations in two out of three genotyped OF's. Interestingly, one of these patients showed a germ-line mutation after blood analysis. RT-PCR amplification was performed to analyze HRPT2 mRNA expression and only wild-type HRPT2 transcript was found in all tumours. Investigation of the parafibromin protein by immunohistochemistry showed a similar pattern of immunolocalization with strong nuclear and cytoplasmic staining in all cases. In conclusion, the present study shows for the first time mutations of HRPT2 gene in OF and suggests that OF may arise due to haploinsufficiency of the HRPT2 gene.
Assuntos
Fibroma Ossificante/genética , Genes Supressores de Tumor , Neoplasias Mandibulares/genética , Proteínas Supressoras de Tumor/genética , Adolescente , Adulto , Feminino , Fibroma Ossificante/metabolismo , Expressão Gênica , Humanos , Masculino , Neoplasias Mandibulares/metabolismo , Pessoa de Meia-Idade , Mutação , RNA Mensageiro/genética , RNA Neoplásico/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Proteínas Supressoras de Tumor/metabolismoRESUMO
BACKGROUND: Fine needle aspiration cytology (FNAC) is an important technique in the diagnosis of oral and maxillofacial conditions. The purpose of the present paper is to report a case of oral metastasis of breast carcinoma diagnosed by FNAC. CASE: A 45-year-old, black woman was referred for evaluation of symptomatic swelling in the left mandible. The medical history revealed that the patient had undergone extensive surgery to remove a lobular carcinoma. She had finished chemotherapy treatment about 5 months earlier. Due to the main diagnostic considerations of metastatic and inflammatory disease, FNAC was performed. The cytologic picture was consistent with a metastatic glandular neoplasm. CONCLUSION: FNAC is a safe, reliable, cost-effective and easy procedure and sometimes eliminates the need for open biopsy.
