RESUMEN
The maximum efficiency of solar cells utilizing a single layer for photovoltaic conversion is given by the single junction Shockley-Queisser limit. In tandem solar cells, a stack of materials with different band gaps contribute to the conversion, enabling tandem cells to exceed the single junction Shockley-Queisser limit. An intriguing variant of this approach is to embed semiconducting nanoparticles in a transparent conducting oxide (TCO) solar cell front contact. This alternative route would enhance the functionality of the TCO layer, allowing it to participate directly in photovoltaic conversion via photon absorption and charge carrier generation in the nanoparticles. Here, we demonstrate the functionalization of ZnO through incorporation of either ZnFe2O4 spinel nanoparticles (NPs) or inversion domain boundaries (IDBs) decorated by Fe. Diffuse reflectance spectroscopy and electron energy loss spectroscopy show that samples containing spinel particles and samples containing IDBs decorated by Fe both display enhanced absorption in the visible range at around 2.0 and 2.6 eV. This striking functional similarity was attributed to the local structural similarity around Fe-ions in spinel ZnFe2O4 and at Fe-decorated basal IDBs. Hence, functional properties of the ZnFe2O4 arise already for the two-dimensional basal IDBs, from which these planar defects behave like two-dimensional spinel-like inclusions in ZnO. Cathodoluminescence spectra reveal an increased luminescence around the band edge of spinel ZnFe2O4 when measuring on the spinel ZnFe2O4 NPs embedded in ZnO, whereas spectra from Fe-decorated IDBs could be deconvoluted into luminescence contributions from bulk ZnO and bulk ZnFe2O4.
RESUMEN
A hardwood biochar was examined for its potential use as an amendment to aid in the phytostabilization of a severely-contaminated soil at a former sulfuric acid recycling factory site. The soil, which has remained unvegetated for nearly a century, contained high pseudo-total concentrations of lead, arsenic and antimony and was both highly acidic and hydrophobic due to the presence of petroleum-based acid tar. Three application approaches were tested with 10 and 20% (vol/vol) biochar: Incorporation into soil, top-dressing on the surface, and layering within the soil. The results suggest that the homogeneous mixing of the hardwood biochar into soil would not promote the long-term restoration at this site due to its inherently low alkalinity relative to the very high net acidity of the existing soil. In contrast, surface application of biochar resulted in the most successful growth of Canada wild-rye grass by exploiting the properties inherent to biochar alone.
Asunto(s)
Carbón Orgánico/química , Plomo/química , Contaminantes del Suelo/química , Suelo/química , Breas/química , Canadá , Conservación de los Recursos Naturales , Humanos , Lolium/crecimiento & desarrolloRESUMEN
Serotoninergic transmission is reliably implicated in inhibitory control processes. The aim of this study was to test the hypothesis if serotonin transporter polymorphisms mediate inhibitory control in healthy people. 141 healthy subjects, carefully screened for previous and current psychopathology, were genotyped for the 5-HTTLPR and rs25531 polymorphisms. Inhibitory control was ascertained with the Stop Signal Task (SST) from the Cambridge Neuropsychological Test Automated Battery (CANTAB). The triallelic gene model, reclassified and presented in a biallelic functional model, revealed a dose-dependent gene effect on SST performance with Individuals carrying the low expressive allele had inferior inhibitory control compared to high expressive carriers. This directly implicates serotonin transporter polymorphisms (5-HTTLPR plus rs25531) in response inhibition in healthy subjects.
Asunto(s)
Polimorfismo Genético , Proteínas de Transporte de Serotonina en la Membrana Plasmática/genética , Adulto , Femenino , Estudios de Asociación Genética , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Pruebas NeuropsicológicasRESUMEN
INTRODUCTION: Monocyte- and microparticle (MP)-associated tissue factor (TF) is upregulated in diabetes. Lipopolysaccharide (LPS) induces expression of TF and alternatively spliced TF (asTF) and increases MP release from monocytes. Using LPS-stimulated TF-bearing human monocytes, we examined whether glibenclamide, a sulfonylurea used to treat diabetes type 2, might possess anticoagulant properties. METHODS: We studied the effects of glibenclamide on cell- and supernatant-associated procoagulant activity (Factor Xa-generating assay and clot formation assay), on expression of TF and asTF (flow cytometry, RT-qPCR, western blot) and on cell viability and MP release (flow cytometry). RESULTS: Glibenclamide dose-dependently decreased procoagulant activity of cells and supernatants. The reduction in cellular procoagulant activity coincided with reduced expression of TF and asTF in cells, whereas cell viability remained almost unchanged. The glibenclamide-induced reduction in procoagulant activity of supernatants appeared to be associated with a decreased number of released MPs. CONCLUSIONS: Reduction of monocyte- and supernatant-associated procoagulant activity by glibenclamide is associated with decreased expression of TF and asTF and possibly with a reduced MP number. Our data indicate that glibenclamide reduces the prothrombotic state in LPS-stimulated monocytes in vitro. Glibenclamide might therefore also have an anticoagulant effect in vivo, but this needs to be further evaluated.
Asunto(s)
Anticoagulantes , Gliburida/farmacología , Hipoglucemiantes/farmacología , Monocitos/efectos de los fármacos , Pruebas de Coagulación Sanguínea , Supervivencia Celular/efectos de los fármacos , Micropartículas Derivadas de Células/efectos de los fármacos , Células Cultivadas , Humanos , Lipopolisacáridos , Trombofilia/tratamiento farmacológico , Tromboplastina/análisis , Tromboplastina/efectos de los fármacosRESUMEN
BACKGROUND: Whether in utero exposure to tobacco smoke increases a woman's risk of fetal loss later in life is unknown, though data on childhood exposure suggest an association may exist. This study evaluated the association between in utero exposure to tobacco smoke and fetal loss in the Norwegian Mother and Child Cohort Study (MoBa), which enrolled â¼40% of the pregnant women in Norway from 1999 to 2008. METHODS: Information on exposure to tobacco smoke in utero, the woman's own smoking behavior during pregnancy and other factors was obtained by a questionnaire completed at â¼17 weeks of gestation. Subsequent late miscarriage (fetal death <20 weeks) and stillbirth (fetal death ≥ 20 weeks) were ascertained from the Norwegian Medical Birth Registry. This analysis included 76 357 pregnancies (MoBa data set version 4.301) delivered by the end of 2008; 59 late miscarriages and 270 stillbirths occurred. Cox proportional hazards models were fit for each outcome and for all fetal deaths combined. RESULTS: The adjusted hazard ratio (HR) of late miscarriage was 1.23 [95% confidence interval (CI), 0.72-2.12] in women with exposure to maternal tobacco smoke in utero when compared with non-exposed women. The corresponding adjusted HR for stillbirths was 1.11 (95% CI, 0.85-1.44) and for all fetal deaths combined, it was 1.12 (95% CI, 0.89-1.43). CONCLUSIONS: The relatively wide CI around the HR for miscarriage reflected the limited power to detect an association, due to enrollment around 17 weeks of gestation. However, for in utero exposure to tobacco smoke and risk of stillbirth later in life, where the study power was adequate, our data provided little support for an association.
Asunto(s)
Aborto Espontáneo/epidemiología , Muerte Fetal/epidemiología , Fumar/efectos adversos , Peso al Nacer , Estudios de Cohortes , Femenino , Humanos , Estimación de Kaplan-Meier , Exposición Materna/estadística & datos numéricos , Noruega/epidemiología , EmbarazoRESUMEN
A commercial immunoassay for antibodies to the C6 antigen of Borrelia burgdorferi was evaluated against an IgG in-house ELISA in combination with a Western blot assay to examine 104 samples of serum from 53 healthy Bernese mountain dogs, which were suspected to have a breed predisposition to Lyme borreliosis, and 55 samples from 30 healthy large-breed longhair dogs. The two test methods correlated in 125 (79 per cent) of the samples with an agreement of kappa=0.571 (P<0.001). In comparison with the in-house ELISA in combination with a Western blot, the sensitivity and specificity of the C6 test were 81 per cent and 77 per cent respectively. The agreement between the tests was better with the samples from the Bernese mountain dogs (k=0.681) than with the samples from the control dogs (k=0.347).
Asunto(s)
Anticuerpos Antibacterianos/sangre , Borrelia burgdorferi/inmunología , Enfermedades de los Perros/diagnóstico , Ensayo de Inmunoadsorción Enzimática/veterinaria , Inmunoensayo/veterinaria , Enfermedad de Lyme/veterinaria , Animales , Enfermedades de los Perros/microbiología , Perros , Europa (Continente)/epidemiología , Femenino , Inmunoglobulina G/sangre , Enfermedad de Lyme/sangre , Enfermedad de Lyme/diagnóstico , Masculino , Sensibilidad y Especificidad , Pruebas Serológicas/veterinariaRESUMEN
Lyme borreliosis is the most commonly reported tick-transmitted infectious disease in the northern hemisphere in humans. Certain diseases are associated with Lyme borreliosis in the dog as well, but only intermittent lameness with articular swelling, lymphadenomegaly, fever, and anorexia were experimentally documented. Lyme borreliosis is considered an over diagnosed disease. The term "Lyme nephritis" was introduced for dogs with characteristic renal lesions and typical clinical signs, in which antibodies against Borrelia burgdorferi were found. Different studies have been aimed at showing a relation between renal disease and B. burgdorferi infection; however, this was not possible until now. Reasons for the uncertainty of the effects of B. burgdorferi in the dog are the high prevalence of circulating antibodies, the unspecific clinical picture and the inaccuracy of serologic tests.
Asunto(s)
Anticuerpos Antibacterianos/sangre , Borrelia burgdorferi/inmunología , Enfermedades de los Perros/diagnóstico , Enfermedad de Lyme/veterinaria , Nefritis/veterinaria , Animales , Diagnóstico Diferencial , Enfermedades de los Perros/inmunología , Enfermedades de los Perros/microbiología , Perros , Enfermedad de Lyme/diagnóstico , Enfermedad de Lyme/inmunología , Nefritis/diagnóstico , Nefritis/inmunología , Nefritis/microbiologíaRESUMEN
BACKGROUND: Postoperative adynamic bowel atony interferes with recovery following abdominal surgery. Prokinetic pharmacologic drugs are widely used to accelerate postoperative recovery. OBJECTIVES: To evaluate the benefits and harms of systemic acting prokinetic drugs to treat postoperative adynamic ileus in patients undergoing abdominal surgery. SEARCH STRATEGY: Trials were identified by computerised searches of the Cochrane Central Register of Controlled Trials, MEDLINE, EMBASE, and the Cochrane Colorectal Cancer Group specialised register. The reference lists of included trials and review articles were tracked and authors contacted. SELECTION CRITERIA: Randomised controlled parallel-group trials (RCT) comparing the effect of systemically acting prokinetic drugs against placebo or no intervention. DATA COLLECTION AND ANALYSIS: Four reviewers independently extracted the data and assessed trial quality. Trial authors were contacted for additional information if needed. MAIN RESULTS: Thirty-nine RCTs met the inclusion criteria contributing a total of 4615 participants. Most trials enrolled a small number of patients and showed moderate to poor (reporting of) methodological quality, in particular regarding allocation concealment and intention-to-treat analysis. Fifteen systemic acting prokinetic drugs were investigated and ten comparisons could be summarized. Six RCTs support the effect of Alvimopan, a novel peripheral mu receptor antagonist. However, the trials do not meet reporting guidelines and the drug is still in an investigational stage. Erythromycin showed homogenous and consistent absence of effect across all included trials and outcomes. The evidence is insufficient to recommend the use of cholecystokinin-like drugs, cisapride, dopamine-antagonists, propranolol or vasopressin. Effects are either inconsistent across outcomes, or trials are too small and often of poor methodological quality. Cisapride has been withdrawn from the market due to adverse cardiac events in many countries. Intravenous lidocaine and neostigmine might show a potential effect, but more evidence on clinically relevant outcomes is needed. Heterogeneity among included trials was seen in 10 comparisons. No major adverse drug effects were evident. AUTHORS' CONCLUSIONS: Alvimopan may prove to be beneficial but proper judgement needs adherence to reporting standards. Further trials are needed on intravenous lidocaine and neostigmine. The remaining drugs can not be recommended due to lack of evidence or absence of effect.
Asunto(s)
Abdomen/cirugía , Fármacos Gastrointestinales/uso terapéutico , Seudoobstrucción Intestinal/tratamiento farmacológico , Complicaciones Posoperatorias/tratamiento farmacológico , Adulto , Fármacos Gastrointestinales/clasificación , Humanos , Peristaltismo/efectos de los fármacos , Ensayos Clínicos Controlados Aleatorios como AsuntoRESUMEN
BACKGROUND: Workers producing bacterial single-cell protein (BSCP), "bioprotein," are exposed to organic dust containing high levels of endoxins (lipopolysaccharides, LPS). Workers in this industry have complained of episodes of fever, fatigue, chest tightness, skin dryness and rubor. The aim of the present study was to quantify LPS and inflammatory mediators in plasma among the workers and non-exposed control subjects. METHODS: We included eight non-smoking production workers, aged 32-51 (median 38), and eight non-smoking, non-exposed controls, aged 30-51 (median 39). Airborne and plasma endotoxin concentrations were measured, as well as plasma hsCRP and different cytokines, chemokines and metalloproteinases. RESULTS: The workers who did not use personal respiratory protection were exposed to varying airborne levels of endotoxin, 430 (75-15 000) EU/m3 (median, range). The level of plasma LPS was significantly elevated (p = 0.01) among the workers compared to the non-exposed controls. The workers also had elevated levels of MCP-1 (p = 0.02), MIP-1alpha (p = 0.05) and MMP-3 (p = 0.04). IL-6 and hsCRP were also elevated among the exposed group, but not significantly (p = 0.10 and p = 0.07, respectively). CONCLUSIONS: In this study, we detected LPS in plasma of individuals exposed to high levels of LPS at their workplace. This finding is supported by elevated levels of several inflammatory cytokines among the workers, significantly exceeding that of the non-exposed control group. To the best of our knowledge, this is the first time that plasma LPS, together with increased inflammatory markers in plasma, has been detected in an occupational setting.
Asunto(s)
Contaminantes Ocupacionales del Aire/sangre , Bioquímica , Industria Química , Lipopolisacáridos/sangre , Adulto , Alimentación Animal , Fenómenos Bioquímicos , Biomarcadores/sangre , Proteína C-Reactiva/análisis , Estudios de Casos y Controles , Citocinas/sangre , Monitoreo del Ambiente/métodos , Femenino , Humanos , Enfermedades Pulmonares/etiología , Masculino , Metaloproteasas/sangre , Methylococcus capsulatus , Persona de Mediana Edad , Enfermedades Profesionales/etiología , Exposición ProfesionalRESUMEN
PURPOSE: The purpose of this study was to use an established porcine model to investigate the effects on immune function of severe gunshot injury. METHODS: Twelve pigs sustained two standardised rounds, one through right femur and one through left upper abdomen. First aid treatment and acute surgery was started immediately. Blood samples were drawn before shooting and after 75 min. Circulating neutrophils were isolated and reactive oxygen species (ROS) measured. Serum levels of tumour necrosis factor-alpha (TNF-alpha), interleukin-1beta (IL-1beta), IL-6, and IL-10 were determined at 0, 75 min, as well as 2h after incubation with 1 microg/ml endotoxin in an ex vivo whole blood model. RESULTS: TNF-alpha, IL-1beta, and IL-6 significantly increased at 75 min. ROS in circulating granulocytes tended to increase (NS). Incubation with endotoxin led to a more than 100-fold increase of TNF-alpha pre-trauma, compared to a three-fold increase post-trauma (p<0.0001 between groups). A similar pattern was obtained for IL-1beta, and IL-6. IL-10 was below detection in all samples. The granulocytes maintained their ability to react to the protein kinase C activator phorbol myristate acetate (PMA) after trauma. CONCLUSION: Severe gunshot injury and peritraumatic stress rapidly activate circulating immune cells, but reduce their capacity to react to a subsequent challenge to endotoxin.
Asunto(s)
Hemorragia/inmunología , Interleucinas/metabolismo , Especies Reactivas de Oxígeno/metabolismo , Factor de Necrosis Tumoral alfa/análisis , Heridas por Arma de Fuego/inmunología , Traumatismos Abdominales/sangre , Traumatismos Abdominales/inmunología , Animales , Hemorragia/sangre , Macrófagos/metabolismo , Neutrófilos/metabolismo , Porcinos , Heridas por Arma de Fuego/sangre , Heridas por Arma de Fuego/cirugíaRESUMEN
BACKGROUND: The majority of hemochromatosis patients are homozygous for the HFE-C282Y mutation. However, less than half of C282Y homozygous subjects identified by population screening studies actually develop the disease. The cytokine TNF-alpha is implicated in the regulation of iron metabolism at different levels. Our aim was to study the role of TNF-alpha and its promoter polymorphisms in the phenotypic expression of hemochromatosis in individuals with and without the C282Y mutation. METHODS: We studied 4 groups of 10 subjects each: (1) C282Y homozygotes without clinical hemochromatosis; (2) C282Y homozygotes with hemochromatosis; (3) secondary hemochromatosis (without C282Y mutation); and (4) controls. Groups were age-matched and sex-matched. Peripheral blood mononuclear cells (PBMC) were stimulated with lipopolysaccharide (LPS) and the release of TNF-alpha was measured. Additionally, the G/A polymorphisms at position -238 and -308 of the TNF-alpha, gene were determined by PCR and RFLP analysis in 178 hemochromatosis patients and 41 controls. RESULTS: TNF-alpha production from PBMC at 8 and 24 h after increasing concentrations of LPS stimulation were similar in the four groups. The prevalence of TNF-alpha polymorphisms was similar in patients and controls. The prevalences of cirrhosis, siderosis, median s-ferritin and median ALT values were similar in patients with and without the TNF-alpha polymorphisms. CONCLUSIONS: Neither TNF-alpha, released from PBMC nor the presence of TNF-alpha polymorphisms seem to be associated with disease manifestation in hemochromatosis.
Asunto(s)
Expresión Génica/genética , Hemocromatosis/genética , Antígenos de Histocompatibilidad Clase I/genética , Proteínas de la Membrana/genética , Polimorfismo Genético/genética , Regiones Promotoras Genéticas/genética , Factor de Necrosis Tumoral alfa/genética , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Proteína de la Hemocromatosis , Homocigoto , Humanos , Técnicas In Vitro , Masculino , Persona de Mediana Edad , Mutación/genética , FenotipoRESUMEN
We tested the hypothesis that genetic variation in the human sodium channel gene SCN2A confers liability to idiopathic generalized epilepsy (IGE). We performed a systematic search for mutations in 46 familial IGE cases and detected three novel polymorphisms, however, allele frequencies did not differ significantly between patients and controls. A rare mutation (R1918H) was identified in one patient but was absent in one further affected family member. Thus, our results do not suggest a major role of SCN2A in the etiology of IGE.
Asunto(s)
Epilepsia Generalizada/genética , Variación Genética , Mutación , Proteínas del Tejido Nervioso/genética , Canales de Sodio/genética , Alelos , Sustitución de Aminoácidos , Femenino , Frecuencia de los Genes , Humanos , Masculino , Mutación Missense , Canal de Sodio Activado por Voltaje NAV1.2 , Linaje , Polimorfismo Genético , Valores de ReferenciaRESUMEN
We describe three male sib fetuses with isolated myocardial calcifications resulting in intrauterine fetal death (IUFD) as early as the second trimester. No evidence for an underlying mitochondrial cytopathy, dystrophinopathy or myopathy was found. There were no signs of inflammation or a metabolic disorder, and the mother had no prenatal exposure of teratogenic drugs. Furthermore, no mutation in the Barth syndrome gene (G4.5) could be detected. Because isolated calcification of the heart and IUFD are not typical of any previously described inherited cardiomyopathy, it may represent a new familial fetal cardiomyopathy.
Asunto(s)
Calcinosis , Cardiomiopatías/patología , Enfermedades Fetales/patología , Miocardio/patología , Cardiomiopatías/genética , Salud de la Familia , Resultado Fatal , Femenino , Muerte Fetal , Enfermedades Fetales/genética , Feto , Humanos , Masculino , Embarazo , Complicaciones del Embarazo , Segundo Trimestre del Embarazo , Síndrome , Ultrasonografía PrenatalRESUMEN
After developing and applying a method for cryopreserving monocytes, we found a substantial cell loss when culturing these cells. Monocytes were isolated from blood donors by density gradient centrifugation, purified by elutriation and cryopreserved. Thawed cells were cultured in ultra low attachment wells and studied with Annexin V, Propidium iodide, Dihexyloxacarbocyanine (DiOC(6)(3)), bromolated deoxyuridine triphosphate nucleotides (Br-dUTP), DNA ploidy and DNA ladder methodologies. The main cell loss was within the first 24 h and recovery on day 7 was 35-40%. The first 2-6 h of culture were found to be crucial for determining which cells survive. Initially (2-4 h), apoptosis was the main feature but after 6 h, necrosis dominated. Two populations of cells developed after 24 h: "A" consisting of larger cells with low levels of apoptosis and necrosis signals and population "B" comprising smaller cells with a high expression of necrotic but low levels of apoptotic signals. Signs of DNA fragmentation were slight. These early, dynamic changes may be important for the interpretation of experimental results when investigating monocytes in culture.
Asunto(s)
Apoptosis , Técnicas de Cultivo de Célula , Citometría de Flujo , Monocitos/citología , Necrosis , Técnicas de Cultivo de Célula/métodos , Células Cultivadas , Criopreservación , Daño del ADN , Citometría de Flujo/métodos , Humanos , Factores de TiempoRESUMEN
In the present study, we have shown that stimulation of cryopreserved, human peripheral blood monocytes with the cell wall components from Gram-negative bacteria, lipopolysaccharide (LPS), and from rapid-growing Mycobacterium sp., non-mannose-capped lipoarabinomannan (AraLAM), both induce expression of the "early immediate genes" tissue factor (TF) and tumor necrosis factor-alpha (TNF-alpha). This was demonstrated both at the protein and the mRNA levels. Antibodies against the CD14 receptor could block the stimulating effects. AraLAM was a significantly weaker inducer than LPS, and we speculate that this may reside in the number of the fatty acids in the part of the molecule that interacts with the CD14/Toll-like receptors (TLR). Finally, both LPS and AraLAM activated the "early immediate genes" through translocation of the transcription factor proteins NF-kappaB/Rel and increasing the binding activity of AP-1.
Asunto(s)
Genes Inmediatos-Precoces/efectos de los fármacos , Lipopolisacáridos/farmacología , Monocitos/efectos de los fármacos , Tromboplastina/genética , Factor de Necrosis Tumoral alfa/genética , Antígenos Bacterianos/farmacología , Escherichia coli/química , Regulación de la Expresión Génica/efectos de los fármacos , Humanos , Monocitos/metabolismo , Mycobacterium/química , FN-kappa B/efectos de los fármacos , ARN Mensajero/efectos de los fármacos , ARN Mensajero/metabolismo , Tromboplastina/efectos de los fármacos , Tromboplastina/metabolismo , Factor de Transcripción AP-1/efectos de los fármacos , Factores de Transcripción/efectos de los fármacos , Factor de Necrosis Tumoral alfa/efectos de los fármacos , Factor de Necrosis Tumoral alfa/metabolismoRESUMEN
We recently described mutations of the neuronal sodium-channel alpha-subunit gene, SCN1A, on chromosome 2q24 in two families with generalized epilepsy with febrile seizures plus (GEFS+) type 2. To assess the contribution that SCN1A makes to other types of epilepsy, 226 patients with either juvenile myoclonic epilepsy, absence epilepsy, or febrile convulsions were screened by conformation-sensitive gel electrophoresis and manual sequencing of variants; the sample included 165 probands from multiplex families and 61 sporadic cases. The novel mutation W1204R was identified in a family with GEFS+. Seven other coding changes were observed; three of these are potential disease-causing mutations. Two common haplotypes, with frequencies of .67 and .33, were defined by five single-nucleotide polymorphisms (SNPs) spanning a 14-kb region of linkage disequilibrium. An SNP located 18 bp upstream of the splice-acceptor site for exon 3 was observed in 7 of the 226 patients but was not present in 185 controls, suggesting possible association with a disease mutation. This work has confirmed the role of SCN1A in GEFS+, by identification of a novel mutation in a previously undescribed family. Although a few candidate disease alleles were identified, the patient survey suggests that SCN1A is not a major contributor to idiopathic generalized epilepsy. The SCN1A haplotypes and SNPs identified here will be useful in future association and linkage studies.
Asunto(s)
Epilepsia Generalizada/genética , Epilepsia/genética , Variación Genética/genética , Mutación/genética , Proteínas del Tejido Nervioso/genética , Convulsiones Febriles/genética , Canales de Sodio/genética , Secuencia de Aminoácidos , Secuencia Conservada/genética , Proteínas Quinasas Dependientes de AMP Cíclico/metabolismo , Análisis Mutacional de ADN , Exones/genética , Femenino , Frecuencia de los Genes/genética , Pruebas Genéticas , Haplotipos/genética , Humanos , Intrones/genética , Masculino , Datos de Secuencia Molecular , Canal de Sodio Activado por Voltaje NAV1.1 , Linaje , Fosforilación , Polimorfismo de Nucleótido Simple/genética , Proteínas Tirosina Quinasas/metabolismo , Alineación de Secuencia , SíndromeRESUMEN
Idiopathic generalized epilepsy (IGE) comprises a heterogeneous group of disorders, in which a high genetic predisposition and a complex mode of inheritance have been suggested. Recent identification of ion channel gene mutations in Mendelian epileptic disorders suggests genetically driven neuronal hyperexcitability as one important factor in epileptogenesis. Mutations in two neuronal voltage-gated potassium channel genes (KCNQ2 and KCNQ3) have already been shown to cause epilepsy (BFNC), and we now tested the hypothesis that genetic variation in the KCNQ3 gene confers liability to common IGE subtypes. Length variation of two intragenic polymorphic markers (D8S558 and D8S1835) were therefore assessed in 71 nuclear families ascertained for an affected child. However, the transmission-disequilibrium-test did not show significant differences between the transmitted and non-transmitted parental alleles. Thus, our findings do not provide evidence that genetic variation in the KCNQ3 gene exerts a relevant effect in the etiology of common IGE subtypes.
Asunto(s)
Epilepsia Generalizada/genética , Canales de Potasio con Entrada de Voltaje , Canales de Potasio/genética , Alelos , Niño , Preescolar , ADN/genética , Marcadores Genéticos , Genotipo , Humanos , Canal de Potasio KCNQ3 , Desequilibrio de Ligamiento/genética , FenotipoRESUMEN
Idiopathic generalized epilepsy (IGE) comprises a heterogeneous group of disorders, in which a high genetic predisposition and a complex mode of inheritance have been suggested. However, genes, which confer liability to common IGE subtypes including juvenile myoclonic epilepsy (JME) and childhood absence epilepsy (CAE) have not been identified so far. Here, we tested the hypothesis that genetic variation in the human homolog of the <<<