RESUMEN
We investigated the variability in the expression of human equilibrative nucleoside transporter 1 (hENT1) and ribonucleotide reductase subunit M1 (RRM1) in non-Hodgkin lymphoma cell lines. hENT1 and RRM1 mRNA expression levels in natural killer (NK) cells and seven non-Hodgkin lymphoma cell lines (YTS, SNK-6, Jeko-1, ly-1, Raji, Karpas, and Jurket) were studied using reverse-transcription quantitative real-time polymerase chain reaction (RT-qPCR) and the results were compared using the Student t-test. mRNA expression of hENT1 was detectable in YTS, SNK-6, Jeko-1, ly-1, Raji, Karpas, Jurket, and NK cells, which revealed variability in gene expression. There were significant differences in the mRNA expression values of hENT1 (P = 0.021) and RRM1 (P = 0.002) compared to those in NK cells. mRNA expression of both hENT1 and RRM1 was closely associated with non-Hodgkin lymphoma cell proliferation. Differential expression analysis of hENT1 and RRM1 in non-Hodgkin lymphoma cell lines may provide novel drug leads for precision medicine.
Asunto(s)
Tranportador Equilibrativo 1 de Nucleósido/metabolismo , Linfoma no Hodgkin/genética , Proteínas Supresoras de Tumor/metabolismo , Línea Celular Tumoral , Proliferación Celular , Tranportador Equilibrativo 1 de Nucleósido/genética , Humanos , Linfoma no Hodgkin/metabolismo , Ribonucleósido Difosfato Reductasa , Proteínas Supresoras de Tumor/genéticaRESUMEN
Ectodermal dysplasia (ED) represents a collection of rare disorders that result from a failure of development of the tissues derived from the embryonic ectoderm. ED is often associated with hair, teeth, and skin abnormalities, which are serious conditions affecting the quality of life of the patient. To date, a large number of genes have been found to be associated with this syndrome. Here, we report a patient with hypohidrotic ED (HED) without family history. We identified that this patient's disorder arises from an X-linked HED with a mutation in the EDA gene (G299D) found by whole-exome sequencing. In addition, in this paper we summarize the disease-causing mutations based on current literature. Overall, recent clinical and genetic research involving patients with HED have uncovered a large number of pathogenic mutations in EDA, which might contribute to a full understanding of the function of EDA and the underlying mechanisms of HED caused by EDA mutations.
Asunto(s)
Displasia Ectodermal Anhidrótica Tipo 1/genética , Ectodisplasinas/genética , Mutación/genética , Biopsia , Niño , Análisis Mutacional de ADN , Displasia Ectodermal Anhidrótica Tipo 1/diagnóstico por imagen , Humanos , Masculino , Modelos Biológicos , Radiografía , Piel/patología , Diente/diagnóstico por imagen , Diente/patologíaRESUMEN
We investigated the effect of atorvastatin on vascular endothelial growth inhibitor (VEGI) expression in rats with diabetic retinopathy. Wistar rats were divided into a blank group and diabetic model group, which was further randomly divided into treatment and control groups. Rats in the treatment group received 10 mg/kg atorvastatin daily, while rats in the blank and control groups received normal saline. Rats were randomly euthanized at 3 or 6 months. Immunohistochemical staining was used to determine changes in VEGI and vascular endothelial growth factor, interleukin-4, and tumor necrosis factor α levels in rats with diabetic retinopathy. Survival rate in the treatment group was 84% (63/75) after 6 months, which was significantly higher than that in the control group (P < 0.05); rats in the control group showed the lowest survival rate. Survival in the treatment group was higher than that in the control group but not significant compared with the blank group after 3 months. VEGI, vascular endothelial growth factor, tumor necrosis factor α, and interluekin-4 expression was lower than that in the control group, but higher than the blank group after 3 months. The expression of each factor decreased to the blank group level in the treatment group and was significantly lower than that in the control group after 6 months (P < 0.05). Expression in control and blank groups was similar at 3 and 6 months. Atorvastatin can inhibit VEGI and vascular endothelial growth factor expression to protect rats from diabetic retinopathy.
Asunto(s)
Atorvastatina/administración & dosificación , Diabetes Mellitus Experimental/tratamiento farmacológico , Retinopatía Diabética/tratamiento farmacológico , Miembro 15 de la Superfamilia de Ligandos de Factores de Necrosis Tumoral/biosíntesis , Factor A de Crecimiento Endotelial Vascular/genética , Animales , Diabetes Mellitus Experimental/genética , Diabetes Mellitus Experimental/patología , Retinopatía Diabética/genética , Retinopatía Diabética/patología , Células Endoteliales/efectos de los fármacos , Células Endoteliales/metabolismo , Células Endoteliales/patología , Regulación Neoplásica de la Expresión Génica/efectos de los fármacos , Humanos , Interleucina-4/biosíntesis , Ratas , Ratas Wistar , Miembro 15 de la Superfamilia de Ligandos de Factores de Necrosis Tumoral/genética , Factor de Necrosis Tumoral alfa/biosíntesis , Factor de Necrosis Tumoral alfa/genética , Factor A de Crecimiento Endotelial Vascular/biosíntesisRESUMEN
The global features of trimethylations of histone 3 at lysine 9 (H3K9me3) have been well studied in recent years; however, most of these studies were performed in mammalian cell lines. In this study, we generated genome-wide maps of H3K9me3 of the human heart and spleen using chromatin immunoprecipitation followed by high-throughput sequencing (ChIP-seq) technology. We examined the global patterns of H3K9me3 in both tissues and found that modifications were closely associated with tissue-specific expression, function, and development. In addition, we found that 169 genes displayed significant H3K9me3 differences between the heart and spleen. Among these genes, 64 were heart-H3K9me3-specific, 87 genes were spleen-H3K9me3-specific, and 18 were shared in both heart- and spleen-H3K9me3. In conclusion, we observed significant differences in H3K9me3 in the heart and spleen, which may help to explain epigenetic differences between these tissues. Such novel findings highlight the significance of H3K9me3 as a potential biomarker or promising target for epigenetic-based disease treatment.
Asunto(s)
Cromatina/genética , Epigenómica , Genoma Humano , Histonas/genética , Animales , Histona Demetilasas/genética , Histonas/metabolismo , Humanos , Metilación , Miocardio/metabolismo , Análisis de Secuencia por Matrices de Oligonucleótidos , Bazo/metabolismoRESUMEN
OBJECTIVE: To evaluate the feasibility of using magnetic nanoparticles (MNPs) as gene vector and the effect of magnetic field on efficiency of transfection. METHODS: Magnetic nanoparticles were prepared by controlling some chemical reaction parameters through a partially reduction precipitation method with ferric chloride aqueous solution as precursor material. The surface of particles was modified by polyethyleneimine (PEI) agents. The appearance, the size distribution, structure and phase constitute of MNPs were characterized by Transmission electron microscope (TEM), X-ray diffraction (XRD); the potential of absorbing DNA of MNPs was analysed by electrophoresis. Transfection was determined by delivering reporter gene, PGL2-control encoding luciferase, to different cell lines using MNPs-PLL as vector. The effect of magnetic field on the efficiency of transfection was determined using Nd-Fe-B permanent magnet. RESULTS: Foreign gene could be delivered to various cell lines by MNPs-PLL and expressed with high efficiency but the transfection efficiency and time course varied in the different cell lines studied. Magnetic field could enhance the efficiency of transfection by 5-10 fold. CONCLUSION: MNPs- PLL can be used as a novel non-viral gene vector in vitro, which offers a basis for gene delivery in vivo.
OBJETIVO: Evaluar la viabilidad del uso de nanopartículas magnéticas (MNPs) como vectores genéticos y el efecto de campo magnético en la eficiencia de la transfección. MÉTODOS: Se prepararon nanopartículas magnéticas mediante el control de algunos parámetros de la reacción química a través de un método de precipitación de reducción parcial con soluciones acuosas de cloruro férrico como el material precursor. La superficie de las partículas fue modificada mediante agentes de polietileneimina (PEI). La apariencia, el tamaño, distribución, estructura y constitución de fase de las MNPs, se caracterizaron mediante el microscopio electrónico de transmisión (MET), difracción de rayos X (DRX); el potencial de adsorber ADN de las MNPs se analizó mediante electroforesis; la transfección se determinó mediante el suministro del gene reportador de la luciferasa control PGL2, a diferentes líneas celulares usando MNPs - PLL como vectores. El efecto de campo magnético sobre la eficacia de la transfección se determinó usando el imán permanente NdFeB. RESULTADOS: El gene foráneo pudo suministrarse a varias líneas celulares mediante MNPs - PLL y expresarse con alta eficiencia pero la eficiencia de la transfección y el curso de tiempo variaron en las diferentes líneas celulares estudiadas. El campo magnético pudo mejorar la eficiencia de la transfección en 5-10 veces. CONCLUSION: Las MNPs - PLL pueden usarse como un nuevo vector genético no viral in vito, lo cual ofrece una base para el suministro del gene in vivo.
Asunto(s)
Animales , Humanos , Vectores Genéticos , Nanopartículas de Magnetita , Transfección/métodos , Línea Celular , Estudios de Factibilidad , Genes Reporteros , Polietileneimina , Propiedades de SuperficieRESUMEN
OBJECTIVE: To evaluate the feasibility of using magnetic nanoparticles (MNPs) as gene vector and the effect of magnetic field on efficiency of transfection. METHODS: Magnetic nanoparticles were prepared by controlling some chemical reaction parameters through a partially reduction precipitation method with ferric chloride aqueous solution as precursor material. The surface of particles was modified by polyethyleneimine (PEI) agents. The appearance, the size distribution, structure and phase constitute of MNPs were characterized by Transmission electron microscope (TEM), X-ray diffraction (XRD); the potential of absorbing DNA of MNPs was analysed by electrophoresis. Transfection was determined by delivering reporter gene, PGL2-control encoding luciferase, to different cell lines using MNPs-PLL as vector. The effect of magnetic field on the efficiency of transfection was determined using Nd-Fe-B permanent magnet. RESULTS: Foreign gene could be delivered to various cell lines by MNPs-PLL and expressed with high efficiency but the transfection efficiency and time course varied in the different cell lines studied. Magnetic field could enhance the efficiency of transfection by 5-10 fold. CONCLUSION: MNPs- PLL can be used as a novel non-viral gene vector in vitro, which offers a basis for gene delivery in vivo.