RESUMO
Thecaphora frezii is a phytopathogenic fungus that infects Arachys hypogaea L. and produces peanut smut. It has three ontological stages teliospores, basidiospores, and hyphae. Microtubules are cellular structures that participate in various important cellular processes. In this work, we analyzed the presence and location of α-tubulin isotypes and enzymes that participate in tyrosination-detyrosination in the three stages of T. frezii. Although both tyrosinated and detyrosinated tubulin seem to be associated with a membrane fraction component that gives it a similar behavior to integral proteins, in the soluble cytosolic fraction, only detyrosinated tubulin was detected, not tyrosinated tubulin. The presence of α-tubulin was not detected using the monoclonal antibody DM1A as neither acetylated tubulin. The RNA-Seq analysis showed the presence of α, ß, and γ-tubulins and the genes that codes for tyrosine-tubulin ligase and cytosolic carboxypeptidase 1, enzymes that are involved in post-translational modification processes. These sequences showed a high percentage of identity and homology with Ustilago maydis, Thecaphora thlaspeos, and Anthracocystis flocculosa. This is the first report for tubulins subpopulations and the cellular distribution in T. frezii, which together with the data obtained by RNA-Seq contribute to the knowledge of the pathogen, which will allow the development of control strategies.
Assuntos
Microtúbulos , Tirosina , RNA Mensageiro/genética , Tirosina/metabolismo , Microtúbulos/metabolismo , Processamento de Proteína Pós-TraducionalRESUMO
AIM: To investigate the presence/absence of the Chr-11 tRNA-Lys-CUU gene as a marker for genetic predisposition to Type 2 diabetes mellitus (T2DM). METHODS: We enrolled 122 patients diagnosed with T2DM and 77 non-diabetic individuals. We evaluated clinical and biochemical parameters (body mass index, hypertension, cholesterol levels, glycosylated hemoglobin, triglycerides, etc.), and performed a genotypic profiling of Chr-11 tRNA-Lys-CUU by polymerase chain reaction analyses. RESULTS: Approximately one third of the population lacked Chr-11 tRNA-Lys-CUU. We did not observe a statistically significant association between the presence/absence of Chr-11 tRNA-Lys-CUU and T2DM. CONCLUSION: The genotypic distribution of Chr-11 tRNA-Lys-CUU in our population was consistent to that reported by others. This gene failed as a marker for T2DM predisposition.
Assuntos
Biomarcadores/análise , Cromossomos Humanos Par 11/genética , Diabetes Mellitus Tipo 2/genética , Deleção de Genes , Predisposição Genética para Doença , RNA de Transferência de Lisina/genética , Idoso , Estudos de Casos e Controles , Diabetes Mellitus Tipo 2/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Espanha/epidemiologiaRESUMO
La diabetes mellitus tipo II (DM II) es una enfermedad que afecta una gran cantidad de individuos. Un medicamento empleado en el tratamiento de los pacientes es la metformina. Este medicamento es transportado al interior de los hepatocitos por un transportador codificado por el gen SLC22A1. Variantes en el gen con actividad reducida pueden disminuir la cantidad de metformina disponible en el hígado y reducir la respuesta terapéutica. Se propuso evaluar diferentes parámetros bioquímicos en relación a la dosis de metformina y la presencia de variantes en el transportador. Se estudiaron 103 pacientes mayores de 18 años con diagnóstico de DM II, tratados con 1700 mg/día de metformina por más de 6 meses. Se analizaron 5 polimorfismos en el gen SLC22A1, glucemia, HbA1c, función hepática, perfil lipídico y renal. Los niveles de HbA1c y de glucemia fueron más elevados en los pacientes que presentaban los polimorfismos R61C, G401S, M420del y G465R aunque la diferencia fue estadísticamente significativa sólo para la HbA1c en los pacientes que presentaban las variantes M420del y G465R (p=0,0273 y 0,0018, respectivamente). La presencia de polimorfismos con actividad reducida en el gen SLC22A1 afecta los niveles de glucemia y de HbA1c en pacientes con DM II cuando son tratados con metformina.(AU)
Diabetes mellitus type II (DM II) is a disease that affects a large number of individuals. One of the drugs used for the treatment is metformin. Metformin is delivered into hepatocytes by a transporter encoded by the SLC22A1 gene. Gene variants with reduced activity may decrease the amount of metformin available in the liver and reduce the therapeutic response. Various biochemical parameters were evaluated in relation to the metformin dose and the presence of transporter variants. A total of 103 patients older than 18 diagnosed with DM II who were treated with 1700 mg/day of metformin for more than six months were studied. Five polymorphisms in the SLC22A1 gene were analyzed as well as glycemia, HbA1c level, liver function, and lipid and kidney profiles. HbA1c and glycemia levels were higher in patients with the R61C, G401S, M420del and G465R polymorphisms; although the difference was statistically significant only for HbA1c in patients with the M420del and G465R variants (p=0.0273 and 0.0018, respectively). Polymorphisms with reduced activity in the SLC22A1 gene affect blood glucose levels and HbA1c in patients with DM II when they are treated with metformin.(AU)
O diabetes mellitus tipo II (DM II) é uma doenþa que afeta uma grande quantidade de indivíduos. Um medicamento utilizado no tratamento dos doentes é a metformina. Esse medicamento é transportado no interior dos hepatócitos por um transportador codificado pelo gene SLC22A1. Variantes no gene com atividade reduzida podem diminuir a quantidade de Metformina disponível no fígado e reduzir a resposta terapÛutica. Prop¶s-se avaliar diferentes parÔmetros bioquímicos em relaþÒo O dose da metformina e O presenþa de variantes no transportador. Foram estudados 103 pacientes maiores de 18 anos com diagnóstico de DM II tratados com 1700 mg/dia de metformina por mais de 6 meses. Foram analisados 5 polimorfismos no gene SLC22A1; glicemia, HbA1c, funþÒo hepática, perfil lipídico e renal. Os níveis de HbA1c e de glicemia foram superiores em doentes que apresentavam os polimorfismos R61C, G401S, M420del e G465R; embora a diferenþa seja estatisticamente significativa apenas para o HbA1c nos doentes que apresentavam as variantes M420del e G465R (p=0,0273 e 0,0018; respectivamente). A presenþa de polimorfismos com atividade reduzida no gene SLC22A1 afeta os níveis da glicemia e do HbA1c em doentes com DM II quando sÒo tratados com metformina.(AU)
RESUMO
La diabetes mellitus tipo II (DM II) es una enfermedad que afecta una gran cantidad de individuos. Un medicamento empleado en el tratamiento de los pacientes es la metformina. Este medicamento es transportado al interior de los hepatocitos por un transportador codificado por el gen SLC22A1. Variantes en el gen con actividad reducida pueden disminuir la cantidad de metformina disponible en el hígado y reducir la respuesta terapéutica. Se propuso evaluar diferentes parámetros bioquímicos en relación a la dosis de metformina y la presencia de variantes en el transportador. Se estudiaron 103 pacientes mayores de 18 años con diagnóstico de DM II, tratados con 1700 mg/día de metformina por más de 6 meses. Se analizaron 5 polimorfismos en el gen SLC22A1, glucemia, HbA1c, función hepática, perfil lipídico y renal. Los niveles de HbA1c y de glucemia fueron más elevados en los pacientes que presentaban los polimorfismos R61C, G401S, M420del y G465R aunque la diferencia fue estadísticamente significativa sólo para la HbA1c en los pacientes que presentaban las variantes M420del y G465R (p=0,0273 y 0,0018, respectivamente). La presencia de polimorfismos con actividad reducida en el gen SLC22A1 afecta los niveles de glucemia y de HbA1c en pacientes con DM II cuando son tratados con metformina.
Diabetes mellitus type II (DM II) is a disease that affects a large number of individuals. One of the drugs used for the treatment is metformin. Metformin is delivered into hepatocytes by a transporter encoded by the SLC22A1 gene. Gene variants with reduced activity may decrease the amount of metformin available in the liver and reduce the therapeutic response. Various biochemical parameters were evaluated in relation to the metformin dose and the presence of transporter variants. A total of 103 patients older than 18 diagnosed with DM II who were treated with 1700 mg/day of metformin for more than six months were studied. Five polymorphisms in the SLC22A1 gene were analyzed as well as glycemia, HbA1c level, liver function, and lipid and kidney profiles. HbA1c and glycemia levels were higher in patients with the R61C, G401S, M420del and G465R polymorphisms; although the difference was statistically significant only for HbA1c in patients with the M420del and G465R variants (p=0.0273 and 0.0018, respectively). Polymorphisms with reduced activity in the SLC22A1 gene affect blood glucose levels and HbA1c in patients with DM II when they are treated with metformin.
O diabetes mellitus tipo II (DM II) é uma doença que afeta uma grande quantidade de indivíduos. Um medicamento utilizado no tratamento dos doentes é a metformina. Esse medicamento é transportado no interior dos hepatócitos por um transportador codificado pelo gene SLC22A1. Variantes no gene com atividade reduzida podem diminuir a quantidade de Metformina disponível no fígado e reduzir a resposta terapêutica. Propôs-se avaliar diferentes parâmetros bioquímicos em relação à dose da metformina e à presença de variantes no transportador. Foram estudados 103 pacientes maiores de 18 anos com diagnóstico de DM II tratados com 1700 mg/dia de metformina por mais de 6 meses. Foram analisados 5 polimorfismos no gene SLC22A1; glicemia, HbA1c, função hepática, perfil lipídico e renal. Os níveis de HbA1c e de glicemia foram superiores em doentes que apresentavam os polimorfismos R61C, G401S, M420del e G465R; embora a diferença seja estatisticamente significativa apenas para o HbA1c nos doentes que apresentavam as variantes M420del e G465R (p=0,0273 e 0,0018; respectivamente). A presença de polimorfismos com atividade reduzida no gene SLC22A1 afeta os níveis da glicemia e do HbA1c em doentes com DM II quando são tratados com metformina.
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Diabetes Mellitus Tipo 2/tratamento farmacológico , Metformina/normas , Transportador 1 de Cátions Orgânicos/sangue , Glicemia , Diabetes Mellitus Tipo 2 , Metformina/administração & dosagem , Polimorfismo GenéticoRESUMO
BACKGROUND: The most important factor limiting the success of an antiretroviral therapy is toxicity. The HLA-B*5701 allele is predictive of hypersensitivity reaction to Abacavir, and this gene is in a perfect linkage disequilibrium with the rs2395029 SNP present in the HCP5 gene. METHODS: Genomic DNA was extracted from blood obtained from 201 unrelated healthy Argentinean volunteers. The DNA was subjected to an allele-specific PCR method. Sequencing was performed to validate the test results. RESULTS: We were successful to amplify specific fragment of interest from the DNA samples. The method is easy, specific and reproducible. CONCLUSIONS: The application of this methodology is a rapid and simple method to detect the HCP5 polymorphism (rs2395029) previous to administration of Abacavir in patients with HIV infection.