RESUMO
BACKGROUND: Hypovitaminosis D is a public health problem due to its implications for various diseases. Vitamin D has numerous functions, such as modulating the metabolism of cellular tissues, and it is expressed through the vitamin D receptor (VDR) gene that may influence gene expression modulation, which plays an important role in vitamin D metabolism. OBJECTIVE: To evaluate the effect of the genotypes of BsmI single nucleotide polymorphism (SNP) of the VDR gene on VDR, SOD2, and CYP24A1 gene expression in individuals with low serum vitamin D levels. METHODS: This was a cross-sectional analytical study. After signing the informed consent form, individuals were invited to participate and answered a structured questionnaire with identification data. Blood was collected for biochemical analysis, and vitamin D was measured by chemiluminescence; BsmI polymorphism was determined using real-time polymerase chain reaction (PCR) assays with TaqMan allelic discrimination, and gene expression was conducted by qRT-PCR using QuantiFast SYBR® Green PCR Master Mix. Data were analyzed using the SPSS 20.0 software, and differences were considered significant at p < 0.05. RESULTS: 98 individuals with vitamin D ≤ 20 ng/dL were evaluated, and the BsmI SNP of the VDR gene showed CYP24A1 overexpression and low SOD2 expression. CONCLUSION: BsmI SNP of the VDR gene can modulate the expression of the genes evaluated without interfering with serum levels.
Assuntos
Deficiência de Vitaminas , Humanos , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Genótipo , Polimorfismo de Nucleotídeo Único , Masculino , Feminino , Deficiência de Vitaminas/genética , Expressão GênicaRESUMO
Hypertension is the leading contributor to cardiovascular disease worldwide; the prevalence of hypertension is higher among black adults than other racial/ethnic groups. One of the cellular defense mechanisms against reactive oxygen species are the antioxidants, such as the enzyme superoxide dismutase (SOD). Therefore, this study aimed to analyze the influence of the SNP Val16Ala of the SOD2 gene on oxidative stress and hypertension in a community population of self-declared black individuals in southern Brazil. The 158 participants declared themselves black (black/brown) regarding their skin color, being 89 (56.3%) self-declared black and 69 (43.7%) brown. A real-time polymerase chain reaction determined the MnSOD Ala16Val polymorphism, and oxidative stress marker levels were significant, in addition to differences in the hypertensive group regarding the levels of carbonyl (p = .016), thiobarbituric acid reactive substances (p = .040), ischemia-modified albumin (p = .046), total antioxidant capacity (p = .011), and Nitric oxide metabolites (p = .029). The SOD Val/Val genotype was considered a risk factor regardless of the other variables for hypertension (p = .034). The Val16Ala polymorphism of the MnSOD gene presented an association with hypertension.
Assuntos
Hipertensão , Albumina Sérica , Adulto , Antioxidantes , Biomarcadores , Predisposição Genética para Doença , Genótipo , Humanos , Hipertensão/genética , Polimorfismo Genético , Albumina Sérica/genética , Superóxido Dismutase/genética , Superóxido Dismutase/metabolismoRESUMO
RESUMEN Reportamos un caso de una mujer de 28 años, con síndrome nefrótico debido a glomerulonefritis por cambios mínimos 48horas después de la administración de la vacuna contra SARS-CoV2 de AstraZeneca. La paciente tuvo síndrome nefrótico idiopático en la infancia tratado empíricamente con corticoides y ciclosporina, en remisión completa desde los 9 años. Algunos reportes sugieren que determinadas enfermedades glomerulares podrían asociarse infrecuentemente a las vacunas.
ABSTRACT We report a case of a 28-year-old woman with minimal change disease secondary nephrotic syndrome 48 hours after the administration of the AstraZeneca SARS-CoV2 vaccine. The patient had suffered idiopathic nephrotic syndrome in childhood treated empirically with corticosteroids and cyclosporine, in complete remission from the age of 9. Some reports suggest that glomerular disease might appear infrequently associated to some vaccines.
RESUMO
AIM: Treatment of anaemia in haemodialysed patients in the setting of inflammation usually displays high levels of serum ferritin (>800 ng/mL) and low transferrin saturation (TSAT) (<20%) despite i.v. iron supplementation, thus proving iron trapping in the reticuloendothelial system. Melatonin has been reported to reduce cytokine production and, in dialysis patients, to prevent oxidative stress resulting from iron and erythropoietin treatment. METHOD: In this study, we evaluated a group of 10 patients undergoing haemodialysis who displayed elevated serum ferritin (981 +/- 44.6 ng/mL) and TSAT <20% (15.6 +/- 3.8%) after having received 1.2 g of i.v. iron dextran over a period of 8 weeks. These patients received oral melatonin, 6 mg/day at night for 30 days. RESULTS: After this treatment, all of them markedly increased TSAT values, reaching 35.5 +/- 6.7% (P < 0.0001 vs basal values). In addition, ferritin values decreased to 754.4 +/- 263.7 ng/mL (P < 0.05), and serum iron dramatically increased in all of the patients under study (42.4 +/- 9.4 vs 109.7 +/- 24.3 microg/dL; P < 0.0001). Values for haematocrit (28.6 +/- 2.7 vs 31.9 +/- 3.57%; P < 0.05) and haemoglobin (9.19 +/- 0.97 vs 10.04 +/- 1.29 g/dL; P < 0.05) were also improved. Measurements were then repeated 2 weeks after melatonin withdrawal, showing an impressive decrease in TSAT (16.4 +/- 5.3%; P < 0.00001) and serum iron (48 +/- 14.7 microg/dL; P < 0.0001) values and an almost significant increase in ferritin values (954.4 +/- 86 ng/mL; P < 0.054). CONCLUSION: The present study demonstrates that melatonin may strongly correct the reticuloendothelial blockade seen in dialysis patients under an inflammatory status, thus allowing a better management of iron derangements and renal anaemia.