H. pylori shows a great variability in genes associated with virulence, which may influence properties related to gastric adenocarcinoma initiation and progression. Among them, cagA and vacA show a strong positive association with the disease. Therefore, a cross-sectional study was carried out with 281 samples of gastric adenocarcinoma, collected at a cancer reference center in the Brazilian Amazon. Detection of H. pylori was proceeded by PCR of the ureA and 16S genes. Positive samples were subjected to the cagA detection and vacA typing. The bacteria were observed in 32.03% of the samples. Positivity for H. pylori was associated with advanced age (p = 0.0093) and metastases (p = 0.0073). Among the positive cases, 80% (72/90) had the cagA gene. For the “s” position of the vacA gene, 98.8% (83/84) of the bacteria had genotype s1 and 1.2% (1/84) were genotyped as s2. For the “m” position, the results were: 63.6% (56/88) with m1 genotype, 2.3% (2/88) genotyped as m2 and 34.1% (30/88) m1/m2. Virulence factors did not impact an increase in the association with age or metastases. In conclusion, H. pylori infection is associated with malignant phenotype cases of gastric adenocarcinoma, involving metastases. The virulence factors related to the cagA and vacA genes showed a high prevalence in the Brazilian Amazon.
Objective: Delineate a profile of circulating miRNA that interfere with the uptake of c-LDL through the regulation of LDL, APOB-100 and PCSK9 genes that can be used as biomarkers for prognosis and treatment of atherosclerosis. Bibliography review: The atherosclerosis, a chronic and inflammatory disease that occurs when there are high levels of LDL on plasma. This important risk factor for development of cardiovascular disease is the main cause of death worldwide. The miRNAs have recently emerged as potential biomarkers and therapeutic target for lipid metabolism disorders. In this review, we will provide profile of circulating miRNAs that have demonstrated being regulators of PCSK9, LDL and APOB100 genes. Recent work has identified the miR-148, miR-128, miR-27a/b, miR-185, miR-301, miR-130 as important regulators of this pathway because they decrease supply of LDL receptors through interaction with PCSK9. Final considerations: We conclude that, when overexpressed, miR-148a, mir128 and miR-27a/b, miR-122 and miR-34 are related to decrease in LDL, facilitating occurrence of atherosclerosis. Detection of miRNAs profile could be used in the future as a biomarker for disturbs linked to c-LDL uptake and in future anti-miRNAs therapies may be used in the treatment of atherosclerosis.
Objective: The purpose of this study was to report a new variant in the Interferon Regulatory Factor 6 gene (IRF6) and to determine phenotype-genotype correlations in a family segregating Van der Woude syndrome.Methods: A five-generation family of 80 individuals segregating VWS was investigated using a tabulated pedigree but considering that three individuals registered in the pedigree died shortly after birth, the final sample size was 77 individuals. Five individuals had a complete dental clinical examination and molecular analysis performed using direct sequencing of the exon 4 and an adjacent region with 23 base pairs of the IRF6 gene.Results: Features of VWS reported in family history were present in 36.4% (28/77) of all family members; of these 57% (16/28) had pits in the lower lip, 36% (10/28) had both pits and orofacial clefts and 7 % (2/28) had only orofacial clefts. Developmental dental anomalies were observed in three individuals. The sequence analysis of exon 4 of the IRF6 gene carried out for 4 family members revealed the presence of the SNP rs7552506 (c.175-5C> G) located in five base pairs before the start of exon. The analysis of exon 4 of the IRF6 gene also revealed a new variant c.269G>C (p.Ser90Thr) which causes exchange of the Serine amino acid residue for the Threonine residue. Conclusions: The c.269G>C(p.Ser90Thr) can interfere with multimeric interactions and with protein conformation that will be slightly destabilized, because the mutant residue is bigger than the wild-type residue. The phenotypic variations in the cases studied, despite carrying the same genetic mutation, suggest that distinct genetic modifiers operate on the formation of clefts and dental development.
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