ABSTRACT
BACKGROUND: The purpose of this study was to screen juvenile open angle glaucoma (JOAG) patients from Brazil for variants within the MYOC and CYP1B1 genes. MATERIAL AND METHODS: In this study, we evaluated the coding regions of MYOC and CYP1B1 genes in 100 non-related patients with JOAG and 200 controls through Sanger sequencing. We also tested the most frequent single nucleotide variants of CYP1B1 for association with JOAG. RESULTS: Sixteen different sequence variants in the MYOC gene were observed in JOAG patients: eight variants were described as neutral and eight were identified in 34 out of 100 patients with JOAG and no controls, thus being considered damaging. In the CYP1B1 gene, nine neutral variants and two damaging alterations were found among JOAG patients. No association between CYP1B1 variants and JOAG was detected. CONCLUSION: While MYOC damaging alterations were highly prevalent (34%), CYP1B1 damaging variants were less frequent (2%) in this cohort of Brazilian JOAG patients.
Subject(s)
Cytochrome P-450 CYP1B1/genetics , Cytoskeletal Proteins/genetics , Eye Proteins/genetics , Genetic Variation , Glaucoma, Open-Angle/genetics , Glycoproteins/genetics , Adult , Brazil/epidemiology , Cohort Studies , Exons/genetics , Female , Glaucoma, Open-Angle/diagnosis , Glaucoma, Open-Angle/epidemiology , Gonioscopy , Humans , Intraocular Pressure , Male , Mutation , Real-Time Polymerase Chain Reaction , Visual AcuityABSTRACT
Pressure ulcers (PU) are wounds located mainly on bone surfaces where the tissue under pressure suffers ischemia leading to cellular lesion and necrosis , its causes and the healing process depend on several factors. The aim of this study was evaluating the gene expression of inflammatory/reparative factors: IL6, TNF, VEGF, and TGF, which take part in the tissue healing process under effects of low-level laser therapy (LLLT). In order to perform lesion area analysis, PUs were photographed and computer analyzed. Biochemical analysis was performed sa.mpling ulcer border tissue obtained through biopsy before and after laser therapy and quantitative real-time PCR (qRT-PCR) analysis. The study comprised eight individuals, mean age sixty-two years old, and sacroiliac and calcaneous PU, classified as degree III and IV according to the National Pressure Ulcer Advisory Panel (NPUAP). PUs were irradiated with low-level laser (InGaAIP, 100 mW, 660 nm), energy density 2 J/cm2, once a day, with intervals of 24 h, totaling 12 applications. The lesion area analysis revealed averaged improvement of the granulation tissue size up to 50% from pre- to post-treatment. qRT-PCR analysis revealed that IL6 values were not significantly different before and after treatment, TNF gene expression was reduced, and VEFG and TGF-ß gene expression increased after treatment. After LLLT, wounds presented improvement in gross appearance, with increase in factors VEFG and TGF-ß, and reduction of TNF; despite our promising results, they have to be analyzed carefully as this study did not have a control group.
Subject(s)
Biomarkers/metabolism , Diabetes Mellitus/genetics , Gene Expression Regulation , Inflammation/genetics , Low-Level Light Therapy , Pressure Ulcer/genetics , Pressure Ulcer/radiotherapy , Wound Healing/radiation effects , Diabetes Mellitus/radiotherapy , Female , Granulation Tissue/pathology , Humans , Interleukin-6/genetics , Interleukin-6/metabolism , Male , Middle Aged , Real-Time Polymerase Chain Reaction , Transforming Growth Factor beta/genetics , Transforming Growth Factor beta/metabolism , Tumor Necrosis Factor-alpha/genetics , Tumor Necrosis Factor-alpha/metabolism , Vascular Endothelial Growth Factor A/genetics , Vascular Endothelial Growth Factor A/metabolism , Wound Healing/geneticsABSTRACT
OBJECTIVE: The aim of this study was to evaluate the genetic expression of adipokines in the adipocytes of monosodium glutamate (MSG)-treated obese rats submitted to physical activity. MATERIALS AND METHODS: Obesity was induced by neonatal MSG administration. Exercised rats (MSG and control) were subjected to swim training for 30 min for 10 weeks, whereas their respective controls remained sedentary. Total RNA was obtained from sections of the mesenteric adipose tissue of the rats. mRNA levels of adiponectin (Adipoq), tumor necrosis factor alpha (Tnf), peroxisome proliferator-activated receptor alpha (Ppara), and peroxisome proliferator-activated receptor gamma (Pparg) adipokines were quantified by quantitative Real-Time Polymerase Chain Reaction (qRT-PCR). RESULTS: In the exercise-trained control group, the expression of Adipoq increased compared to the sedentary control, which was not observed in the MSG-obese rats. Increased levels of Tnf in MSG-obese rats were not reversed by the swim training. The expression of Ppara was higher in sedentary MSG-obese rats compared to the sedentary control. Swimming increased this adipokine expression in the exercise-trained control rats compared to the sedentary ones. mRNA levels of Pparg were higher in the sedentary MSG-rats compared to the sedentary control; however, the exercise did not influenced its expression in the groups analyzed. CONCLUSIONS: In conclusion, regular physical activity was not capable to correct the expression of proinflammatory adipokines in MSG-obese rat adipocytes.
Subject(s)
Adipokines/genetics , Gene Expression/physiology , Obesity/genetics , Physical Conditioning, Animal/physiology , Swimming/physiology , Adipokines/analysis , Adipose Tissue/chemistry , Animals , Disease Models, Animal , Exercise Therapy , Flavoring Agents , Obesity/chemically induced , Obesity/metabolism , RNA, Messenger/analysis , Rats , Real-Time Polymerase Chain Reaction , Reproducibility of Results , Sedentary Behavior , Sodium Glutamate , Time Factors , Tumor Necrosis Factor-alpha/analysis , Tumor Necrosis Factor-alpha/geneticsABSTRACT
Objective The aim of this study was to evaluate the genetic expression of adipokines in the adipocytes of monosodium glutamate (MSG)-treated obese rats submitted to physical activity.Materials and methods Obesity was induced by neonatal MSG administration. Exercised rats (MSG and control) were subjected to swim training for 30 min for 10 weeks, whereas their respective controls remained sedentary. Total RNA was obtained from sections of the mesenteric adipose tissue of the rats. mRNA levels of adiponectin (Adipoq), tumor necrosis factor alpha (Tnf), peroxisome proliferator-activated receptor alpha (Ppara), and peroxisome proliferator-activated receptor gamma (Pparg) adipokines were quantified by quantitative Real-Time Polymerase Chain Reaction (qRT-PCR).Results In the exercise-trained control group, the expression of Adipoq increased compared to the sedentary control, which was not observed in the MSG-obese rats. Increased levels of Tnf in MSG-obese rats were not reversed by the swim training. The expression of Ppara was higher in sedentary MSG-obese rats compared to the sedentary control. Swimming increased this adipokine expression in the exercise-trained control rats compared to the sedentary ones. mRNA levels of Pparg were higher in the sedentary MSG-rats compared to the sedentary control; however, the exercise did not influenced its expression in the groups analyzed.Conclusions In conclusion, regular physical activity was not capable to correct the expression of proinflammatory adipokines in MSG-obese rat adipocytes.
Subject(s)
Animals , Humans , Adjuvants, Immunologic , Molecular Mimicry/immunology , Tumor Necrosis Factors , Vaccines, Synthetic/immunology , Vaccines/chemistry , Vaccines/immunology , Adjuvants, Immunologic/chemistry , /immunology , /chemistry , /metabolism , Cancer Vaccines/chemistry , Cancer Vaccines/immunology , Genetic Vectors/genetics , Genetic Vectors/immunology , Immunotherapy , Ligands , Lentivirus/genetics , Lentivirus/immunology , Macaca mulatta , Neoplasms/immunology , Neoplasms/therapy , Protein Multimerization , TNF-Related Apoptosis-Inducing Ligand/chemistry , Toll-Like Receptors/agonists , Tumor Necrosis Factors/chemistry , Vaccines, Synthetic/chemistry , Viral Matrix Proteins/immunologyABSTRACT
Maturity Onset Diabetes of the Young (MODY) presents monogenic inheritance and mutation factors which have already been identified in six different genes. Given the wide molecular variation present in the hepatocyte nuclear factor-1α gene (HNF1α) MODY3, the aim of this study was to amplify and sequence the coding regions of this gene in seven patients from the Campos Gerais region, Paraná State, Brazil, presenting clinical MODY3 features. Besides the synonymous variations, A15A, L17L, Q141Q, G288G and T515T, two missense mutations, I27L and A98V, were also detected. Clinical and laboratory data obtained from patients were compared with the molecular findings, including the I27L polymorphism that was revealed in some overweight/obese diabetic patients of this study, this corroborating with the literature. We found certain DNA variations that could explain the hyperglycemic phenotype of the patients.
